Canonical Allele Identifier: CA369133177

Gene: TSPAN12

Linked Data

• ClinVar Variation Id: 2709979
• ClinVar RCV Id: RCV003550213
• gnomAD v4: 7-120788605-A-C
• MyVariant Identifiers: chr7:g.120428659A>C (hg19) ; chr7:g.120788605A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.120788605A>C , CM000669.2:g.120788605A>C	GRCh38
NC_000007.13:g.120428659A>C , CM000669.1:g.120428659A>C	GRCh37
NC_000007.12:g.120215895A>C	NCBI36
NG_023203.1:g.74519T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000222747.8:c.905T>G MANE Select	ENSP00000222747.3:p.Met302Arg
ENST00000222747.7:c.905T>G	ENSP00000222747.3:p.Met302Arg
ENST00000415871.5:c.905T>G	ENSP00000397699.1:p.Met302Arg
ENST00000450414.5:c.884T>G	ENSP00000397411.1:n.884T>G
NM_012338.3:c.905T>G	NP_036470.1:p.Met302Arg
XM_005250239.1:c.905T>G	XP_005250296.1:p.Met302Arg
XM_011515993.1:c.905T>G	XP_011514295.1:p.Met302Arg
XM_011515994.1:c.905T>G	XP_011514296.1:p.Met302Arg
XM_005250239.3:c.905T>G	XP_005250296.1:p.Met302Arg
XM_017011913.1:c.830T>G	XP_016867402.1:p.Met277Arg
NM_012338.4:c.905T>G MANE Select	NP_036470.1:p.Met302Arg