Canonical Allele Identifier: CA369133468

Gene: TSPAN12

Linked Data

• ClinVar Variation Id: 2121934
• ClinVar RCV Id: RCV003053799
• dbSNP Id: rs1793457741
• MyVariant Identifiers: chr7:g.120428757C>A (hg19) ; chr7:g.120788703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788703C>A , CM000669.2:g.120788703C>A	GRCh38
NC_000007.13:g.120428757C>A , CM000669.1:g.120428757C>A	GRCh37
NC_000007.12:g.120215993C>A	NCBI36
NG_023203.1:g.74421G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.807G>T MANE Select	ENSP00000222747.3:p.Gln269His
ENST00000222747.7:c.807G>T	ENSP00000222747.3:p.Gln269His
ENST00000415871.5:c.807G>T	ENSP00000397699.1:p.Gln269His
ENST00000450414.5:c.786G>T	ENSP00000397411.1:n.786G>T
NM_012338.3:c.807G>T	NP_036470.1:p.Gln269His
XM_005250239.1:c.807G>T	XP_005250296.1:p.Gln269His
XM_011515993.1:c.807G>T	XP_011514295.1:p.Gln269His
XM_011515994.1:c.807G>T	XP_011514296.1:p.Gln269His
XM_005250239.3:c.807G>T	XP_005250296.1:p.Gln269His
XM_017011913.1:c.732G>T	XP_016867402.1:p.Gln244His
NM_012338.4:c.807G>T MANE Select	NP_036470.1:p.Gln269His