Canonical Allele Identifier: CA350139085

Gene: CTLA4

Linked Data

• MyVariant Identifiers: chr2:g.204736203G>T (hg19) ; chr2:g.203871480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871480G>T , CM000664.2:g.203871480G>T	GRCh38
NC_000002.11:g.204736203G>T , CM000664.1:g.204736203G>T	GRCh37
NC_000002.10:g.204444448G>T	NCBI36
NG_011502.1:g.8695G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+53G>T	ENSP00000512353.1:n.507+53G>T
ENST00000696479.1:c.632G>T	ENSP00000512655.1:p.Ser211Ile
ENST00000427473.3:n.491+547G>T
ENST00000648405.2:c.560G>T MANE Select	ENSP00000497102.1:p.Ser187Ile
ENST00000650075.1:n.584G>T
ENST00000295854.10:c.457+547G>T	ENSP00000295854.6:n.457+547G>T
ENST00000302823.7:c.560G>T	ENSP00000303939.3:p.Ser187Ile
ENST00000427473.2:c.346+547G>T	ENSP00000409707.2:n.346+547G>T
ENST00000472206.1:c.172+832G>T	ENSP00000417779.1:n.172+832G>T
ENST00000487393.1:n.110-1228G>T
NM_001037631.2:c.457+547G>T	NP_001032720.1:n.457+547G>T
NM_005214.4:c.560G>T	NP_005205.2:p.Ser187Ile
XR_241294.1:n.700G>T
NM_001037631.3:c.457+547G>T	NP_001032720.1:n.457+547G>T
NM_005214.5:c.560G>T MANE Select	NP_005205.2:p.Ser187Ile