RGD:156173583 Rat Genome Database

RGD:156173583 Rat Genome Database

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Variant: RGD:156173583 - Homo sapiens

RGD ID:

156173583

ClinVar ID:

CV2194364

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	22	36,627,456
GRCh38	22	36,231,410

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_145637.3:c.67G>A NG_023229.2:g.13545G>A NC_000022.11:g.36231410C>T NC_000022.10:g.36627456C>T More...	03/16/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	APOL2
Accession:	XM_047441284
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPESSIFIEDYLKYFQDQVSRKNLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLASHMVMKDKNRHDKDQQHRQW FLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVSNSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAA VAGITCSVVELVNKLRARAQARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYA PPPHVIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLEGAKSESAEELKKRAQELEGK LNFLTKIHEMLQPGQDQ*

Gene Symbol:	APOL2
Accession:	XM_011530077
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPESSIFIEDYLKYFQDQVSRKNLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLASHMVMKDKNRHDKDQQHRQW FLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVSNSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAA VAGITCSVVELVNKLRARAQARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYA PPPHVIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLEGAKSESAEELKKRAQELEGK LNFLTKIHEMLQPGQDQ*

Gene Symbol:	APOL2
Accession:	XM_047441285
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPESSIFIEDYLKYFQDQVSRKNLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLASHMVMKDKNRHDKDQQHRQW FLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVSNSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAA VAGITCSVVELVNKLRARAQARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYA PPPHVIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLEGAKSESAEELKKRAQELEGK LNFLTKIHEMLQPGQDQ*

Gene Symbol:	APOL2
Accession:	NM_030882
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPESSIFIEDYLKYFQDQVSRKNLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLASHMVMKDKNRHDKDQQHRQW FLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVSNSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAA VAGITCSVVELVNKLRARAQARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYA PPPHVIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLEGAKSESAEELKKRAQELEGK LNFLTKIHEMLQPGQDQ*

Gene Symbol:	APOL2
Accession:	NM_145637
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	23

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPESSIFIEDYLKYFQDQVSRKNLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLASHMVMKDKNRHDKDQQHRQW FLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVSNSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAA VAGITCSVVELVNKLRARAQARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYA PPPHVIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLEGAKSESAEELKKRAQELEGK LNFLTKIHEMLQPGQDQ*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004079470	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	APOL2	CLINVAR
OMIM	607252	CLINVAR