Canonical Allele Identifier: CA383844671

Gene: A2M KLRG1

Linked Data

• dbSNP Id: rs1949161657
• gnomAD v3: 12-9090021-T-A
• gnomAD v4: 12-9090021-T-A
• COSMIC: COSM4908446
• MyVariant Identifiers: chr12:g.9242617T>A (hg19) ; chr12:g.9090021T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9090021T>A , CM000674.2:g.9090021T>A	GRCh38
NC_000012.11:g.9242617T>A , CM000674.1:g.9242617T>A	GRCh37
NC_000012.10:g.9133884T>A	NCBI36
NG_011717.1:g.30942A>T
NG_011717.2:g.30942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318602.12:c.2599A>T (A2M) MANE Select	ENSP00000323929.8:p.Asn867Tyr
ENST00000318602.11:c.2599A>T (A2M)	ENSP00000323929.7:p.Asn867Tyr
ENST00000462568.1:n.178A>T (A2M)
ENST00000543436.2:n.342A>T (A2M)
ENST00000545828.1:n.348+11529A>T (A2M)
NM_000014.4:c.2599A>T (A2M)	NP_000005.2:p.Asn867Tyr
XM_006719056.2:c.2599A>T (A2M)	XP_006719119.1:p.Asn867Tyr
NM_000014.5:c.2599A>T (A2M)	NP_000005.2:p.Asn867Tyr
NM_001347423.1:c.2599A>T (A2M)	NP_001334352.1:p.Asn867Tyr
NM_001347424.1:c.2299A>T (A2M)	NP_001334353.1:p.Asn767Tyr
NM_001347425.1:c.2149A>T (A2M)	NP_001334354.1:p.Asn717Tyr
XM_006719056.3:c.2599A>T (A2M)	XP_006719119.1:p.Asn867Tyr
XM_017018683.1:c.*33+31855T>A (KLRG1)	XP_016874172.1:n.*33+31855T>A
XM_017018684.1:c.*33+31855T>A (KLRG1)	XP_016874173.1:n.*33+31855T>A
XM_017018685.1:c.*33+31855T>A (KLRG1)	XP_016874174.1:n.*33+31855T>A
NM_000014.6:c.2599A>T (A2M) MANE Select	NP_000005.3:p.Asn867Tyr
NM_001347423.2:c.2599A>T (A2M)	NP_001334352.2:p.Asn867Tyr
NM_001347424.2:c.2299A>T (A2M)	NP_001334353.2:p.Asn767Tyr
NM_001347425.2:c.2149A>T (A2M)	NP_001334354.2:p.Asn717Tyr