Canonical Allele Identifier: CA2067132

Gene: CTLA4

Linked Data

• ClinVar Variation Id: 542068
• ClinVar RCV Id: RCV000652443
• dbSNP Id: rs199912925
• ExAC: 2:204736208 A / G
• gnomAD v2: 2-204736208-A-G
• gnomAD v3: 2-203871485-A-G
• gnomAD v4: 2-203871485-A-G
• MyVariant Identifiers: chr2:g.204736208A>G (hg19) ; chr2:g.203871485A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203871485A>G , CM000664.2:g.203871485A>G	GRCh38
NC_000002.11:g.204736208A>G , CM000664.1:g.204736208A>G	GRCh37
NC_000002.10:g.204444453A>G	NCBI36
NG_011502.1:g.8700A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696049.1:c.507+58A>G	ENSP00000512353.1:n.507+58A>G
ENST00000696479.1:c.637A>G	ENSP00000512655.1:p.Met213Val
ENST00000427473.3:n.491+552A>G
ENST00000648405.2:c.565A>G MANE Select	ENSP00000497102.1:p.Met189Val
ENST00000650075.1:n.589A>G
ENST00000295854.10:c.457+552A>G	ENSP00000295854.6:n.457+552A>G
ENST00000302823.7:c.565A>G	ENSP00000303939.3:p.Met189Val
ENST00000427473.2:c.346+552A>G	ENSP00000409707.2:n.346+552A>G
ENST00000472206.1:c.172+837A>G	ENSP00000417779.1:n.172+837A>G
ENST00000487393.1:n.110-1223A>G
NM_001037631.2:c.457+552A>G	NP_001032720.1:n.457+552A>G
NM_005214.4:c.565A>G	NP_005205.2:p.Met189Val
XR_241294.1:n.705A>G
NM_001037631.3:c.457+552A>G	NP_001032720.1:n.457+552A>G
NM_005214.5:c.565A>G MANE Select	NP_005205.2:p.Met189Val