Canonical Allele Identifier: CA7041997

Gene: SLC10A2

Linked Data

• ClinVar Variation Id: 500243
• ClinVar RCV Id: RCV000595945 ; RCV000763872 ; RCV003927926
• dbSNP Id: rs61966074
• ExAC: 13:103701648 A / G
• gnomAD v2: 13-103701648-A-G
• gnomAD v3: 13-103049298-A-G
• gnomAD v4: 13-103049298-A-G
• MyVariant Identifiers: chr13:g.103701648A>G (hg19) ; chr13:g.103049298A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.103049298A>G , CM000675.2:g.103049298A>G	GRCh38
NC_000013.10:g.103701648A>G , CM000675.1:g.103701648A>G	GRCh37
NC_000013.9:g.102499649A>G	NCBI36
NG_016648.1:g.22549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245312.5:c.910T>C MANE Select	ENSP00000245312.3:p.Phe304Leu
ENST00000245312.4:c.910T>C	ENSP00000245312.3:p.Phe304Leu
NM_000452.2:c.910T>C	NP_000443.1:p.Phe304Leu
NM_000452.3:c.910T>C MANE Select	NP_000443.2:p.Phe304Leu