Canonical Allele Identifier: CA2067128

Gene: CTLA4

Linked Data

• dbSNP Id: rs771987351
• ExAC: 2:204736190 G / T
• gnomAD v2: 2-204736190-G-T
• MyVariant Identifiers: chr2:g.204736190G>T (hg19) ; chr2:g.203871467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871467G>T , CM000664.2:g.203871467G>T	GRCh38
NC_000002.11:g.204736190G>T , CM000664.1:g.204736190G>T	GRCh37
NC_000002.10:g.204444435G>T	NCBI36
NG_011502.1:g.8682G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+40G>T	ENSP00000512353.1:n.507+40G>T
ENST00000696479.1:c.619G>T	ENSP00000512655.1:p.Ala207Ser
ENST00000427473.3:n.491+534G>T
ENST00000648405.2:c.547G>T MANE Select	ENSP00000497102.1:p.Ala183Ser
ENST00000650075.1:n.571G>T
ENST00000295854.10:c.457+534G>T	ENSP00000295854.6:n.457+534G>T
ENST00000302823.7:c.547G>T	ENSP00000303939.3:p.Ala183Ser
ENST00000427473.2:c.346+534G>T	ENSP00000409707.2:n.346+534G>T
ENST00000472206.1:c.172+819G>T	ENSP00000417779.1:n.172+819G>T
ENST00000487393.1:n.110-1241G>T
NM_001037631.2:c.457+534G>T	NP_001032720.1:n.457+534G>T
NM_005214.4:c.547G>T	NP_005205.2:p.Ala183Ser
XR_241294.1:n.687G>T
NM_001037631.3:c.457+534G>T	NP_001032720.1:n.457+534G>T
NM_005214.5:c.547G>T MANE Select	NP_005205.2:p.Ala183Ser