Canonical Allele Identifier: CA7042306

Gene: SLC10A2

Linked Data

• ClinVar Variation Id: 501421
• ClinVar RCV Id: RCV000597225 ; RCV002491219 ; RCV003945427
• dbSNP Id: rs143297386
• ExAC: 13:103718370 C / T
• gnomAD v2: 13-103718370-C-T
• gnomAD v3: 13-103066020-C-T
• gnomAD v4: 13-103066020-C-T
• COSMIC: COSM3467005
• MyVariant Identifiers: chr13:g.103718370C>T (hg19) ; chr13:g.103066020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.103066020C>T , CM000675.2:g.103066020C>T	GRCh38
NC_000013.10:g.103718370C>T , CM000675.1:g.103718370C>T	GRCh37
NC_000013.9:g.102516371C>T	NCBI36
NG_016648.1:g.5827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245312.5:c.230G>A MANE Select	ENSP00000245312.3:p.Gly77Glu
ENST00000245312.4:c.230G>A	ENSP00000245312.3:p.Gly77Glu
NM_000452.2:c.230G>A	NP_000443.1:p.Gly77Glu
NM_000452.3:c.230G>A MANE Select	NP_000443.2:p.Gly77Glu