Canonical Allele Identifier: CA7042226

Gene: SLC10A2

Linked Data

• ClinVar Variation Id: 501088
• ClinVar RCV Id: RCV000592583 ; RCV003905547
• dbSNP Id: rs117447044
• ExAC: 13:103710685 G / A
• gnomAD v2: 13-103710685-G-A
• gnomAD v3: 13-103058335-G-A
• gnomAD v4: 13-103058335-G-A
• COSMIC: COSM241616
• MyVariant Identifiers: chr13:g.103710685G>A (hg19) ; chr13:g.103058335G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.103058335G>A , CM000675.2:g.103058335G>A	GRCh38
NC_000013.10:g.103710685G>A , CM000675.1:g.103710685G>A	GRCh37
NC_000013.9:g.102508686G>A	NCBI36
NG_016648.1:g.13512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245312.5:c.425C>T MANE Select	ENSP00000245312.3:p.Pro142Leu
ENST00000245312.4:c.425C>T	ENSP00000245312.3:p.Pro142Leu
NM_000452.2:c.425C>T	NP_000443.1:p.Pro142Leu
NM_000452.3:c.425C>T MANE Select	NP_000443.2:p.Pro142Leu