Canonical Allele Identifier: CA6437903

Gene: A2M KLRG1

Linked Data

• dbSNP Id: rs754217279
• ExAC: 12:9221438 C / A
• gnomAD v2: 12-9221438-C-A
• gnomAD v4: 12-9068842-C-A
• MyVariant Identifiers: chr12:g.9221438C>A (hg19) ; chr12:g.9068842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9068842C>A , CM000674.2:g.9068842C>A	GRCh38
NC_000012.11:g.9221438C>A , CM000674.1:g.9221438C>A	GRCh37
NC_000012.10:g.9112705C>A	NCBI36
NG_011717.1:g.52121G>T
NG_011717.2:g.52121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318602.12:c.4264G>T (A2M) MANE Select	ENSP00000323929.8:p.Val1422Leu
ENST00000318602.11:c.4264G>T (A2M)	ENSP00000323929.7:p.Val1422Leu
ENST00000495442.1:n.114G>T (A2M)
ENST00000495709.1:n.237G>T (A2M)
ENST00000543436.2:n.452-1030G>T (A2M)
NM_000014.4:c.4264G>T (A2M)	NP_000005.2:p.Val1422Leu
XM_006719056.2:c.4264G>T (A2M)	XP_006719119.1:p.Val1422Leu
NM_000014.5:c.4264G>T (A2M)	NP_000005.2:p.Val1422Leu
NM_001347423.1:c.4264G>T (A2M)	NP_001334352.1:p.Val1422Leu
NM_001347424.1:c.3964G>T (A2M)	NP_001334353.1:p.Val1322Leu
NM_001347425.1:c.3814G>T (A2M)	NP_001334354.1:p.Val1272Leu
XM_006719056.3:c.4264G>T (A2M)	XP_006719119.1:p.Val1422Leu
XM_017018683.1:c.*33+10676C>A (KLRG1)	XP_016874172.1:n.*33+10676C>A
XM_017018684.1:c.*33+10676C>A (KLRG1)	XP_016874173.1:n.*33+10676C>A
XM_017018685.1:c.*33+10676C>A (KLRG1)	XP_016874174.1:n.*33+10676C>A
NM_000014.6:c.4264G>T (A2M) MANE Select	NP_000005.3:p.Val1422Leu
NM_001347423.2:c.4264G>T (A2M)	NP_001334352.2:p.Val1422Leu
NM_001347424.2:c.3964G>T (A2M)	NP_001334353.2:p.Val1322Leu
NM_001347425.2:c.3814G>T (A2M)	NP_001334354.2:p.Val1272Leu