Canonical Allele Identifier: CA383839177

Gene: A2M KLRG1

Linked Data

• dbSNP Id: rs1317688257
• gnomAD v2: 12-9232253-T-G
• gnomAD v4: 12-9079657-T-G
• MyVariant Identifiers: chr12:g.9232253T>G (hg19) ; chr12:g.9079657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9079657T>G , CM000674.2:g.9079657T>G	GRCh38
NC_000012.11:g.9232253T>G , CM000674.1:g.9232253T>G	GRCh37
NC_000012.10:g.9123520T>G	NCBI36
NG_011717.1:g.41306A>C
NG_011717.2:g.41306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318602.12:c.3013A>C (A2M) MANE Select	ENSP00000323929.8:p.Ile1005Leu
ENST00000318602.11:c.3013A>C (A2M)	ENSP00000323929.7:p.Ile1005Leu
ENST00000542567.1:n.368A>C (A2M)
ENST00000543436.2:n.451+10255A>C (A2M)
ENST00000545828.1:n.349-6936A>C (A2M)
NM_000014.4:c.3013A>C (A2M)	NP_000005.2:p.Ile1005Leu
XM_006719056.2:c.3013A>C (A2M)	XP_006719119.1:p.Ile1005Leu
NM_000014.5:c.3013A>C (A2M)	NP_000005.2:p.Ile1005Leu
NM_001347423.1:c.3013A>C (A2M)	NP_001334352.1:p.Ile1005Leu
NM_001347424.1:c.2713A>C (A2M)	NP_001334353.1:p.Ile905Leu
NM_001347425.1:c.2563A>C (A2M)	NP_001334354.1:p.Ile855Leu
XM_006719056.3:c.3013A>C (A2M)	XP_006719119.1:p.Ile1005Leu
XM_017018683.1:c.*33+21491T>G (KLRG1)	XP_016874172.1:n.*33+21491T>G
XM_017018684.1:c.*33+21491T>G (KLRG1)	XP_016874173.1:n.*33+21491T>G
XM_017018685.1:c.*33+21491T>G (KLRG1)	XP_016874174.1:n.*33+21491T>G
NM_000014.6:c.3013A>C (A2M) MANE Select	NP_000005.3:p.Ile1005Leu
NM_001347423.2:c.3013A>C (A2M)	NP_001334352.2:p.Ile1005Leu
NM_001347424.2:c.2713A>C (A2M)	NP_001334353.2:p.Ile905Leu
NM_001347425.2:c.2563A>C (A2M)	NP_001334354.2:p.Ile855Leu