Canonical Allele Identifier: CA369133230

Gene: TSPAN12

Linked Data

• dbSNP Id: rs1367717115
• gnomAD v2: 7-120428680-C-T
• gnomAD v4: 7-120788626-C-T
• MyVariant Identifiers: chr7:g.120428680C>T (hg19) ; chr7:g.120788626C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788626C>T , CM000669.2:g.120788626C>T	GRCh38
NC_000007.13:g.120428680C>T , CM000669.1:g.120428680C>T	GRCh37
NC_000007.12:g.120215916C>T	NCBI36
NG_023203.1:g.74498G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.884G>A MANE Select	ENSP00000222747.3:p.Ser295Asn
ENST00000222747.7:c.884G>A	ENSP00000222747.3:p.Ser295Asn
ENST00000415871.5:c.884G>A	ENSP00000397699.1:p.Ser295Asn
ENST00000450414.5:c.863G>A	ENSP00000397411.1:n.863G>A
NM_012338.3:c.884G>A	NP_036470.1:p.Ser295Asn
XM_005250239.1:c.884G>A	XP_005250296.1:p.Ser295Asn
XM_011515993.1:c.884G>A	XP_011514295.1:p.Ser295Asn
XM_011515994.1:c.884G>A	XP_011514296.1:p.Ser295Asn
XM_005250239.3:c.884G>A	XP_005250296.1:p.Ser295Asn
XM_017011913.1:c.809G>A	XP_016867402.1:p.Ser270Asn
NM_012338.4:c.884G>A MANE Select	NP_036470.1:p.Ser295Asn