Canonical Allele Identifier: CA383855139

Gene: A2M KLRG1

Linked Data

• dbSNP Id: rs1226874172
• gnomAD v2: 12-9268411-A-G
• gnomAD v4: 12-9115815-A-G
• MyVariant Identifiers: chr12:g.9268411A>G (hg19) ; chr12:g.9115815A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9115815A>G , CM000674.2:g.9115815A>G	GRCh38
NC_000012.11:g.9268411A>G , CM000674.1:g.9268411A>G	GRCh37
NC_000012.10:g.9159678A>G	NCBI36
NG_011717.1:g.5148T>C
NG_011717.2:g.5148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318602.12:c.35T>C (A2M) MANE Select	ENSP00000323929.8:p.Val12Ala
ENST00000318602.11:c.35T>C (A2M)	ENSP00000323929.7:p.Val12Ala
ENST00000404455.2:c.35T>C (A2M)	ENSP00000385710.2:p.Val12Ala
ENST00000467091.1:n.247T>C (A2M)
ENST00000497324.1:n.203T>C (A2M)
ENST00000539638.5:c.35T>C (A2M)	ENSP00000445717.1:p.Val12Ala
NM_000014.4:c.35T>C (A2M)	NP_000005.2:p.Val12Ala
XM_006719056.2:c.35T>C (A2M)	XP_006719119.1:p.Val12Ala
NM_000014.5:c.35T>C (A2M)	NP_000005.2:p.Val12Ala
NM_001347423.1:c.35T>C (A2M)	NP_001334352.1:p.Val12Ala
NM_001347424.1:c.-419T>C (A2M)	NP_001334353.1:n.-419T>C
NM_001347425.1:c.-256T>C (A2M)	NP_001334354.1:n.-256T>C
XM_006719056.3:c.35T>C (A2M)	XP_006719119.1:p.Val12Ala
XM_017018683.1:c.*34-9559A>G (KLRG1)	XP_016874172.1:n.*34-9559A>G
XM_017018684.1:c.*34-19271A>G (KLRG1)	XP_016874173.1:n.*34-19271A>G
XM_017018685.1:c.*33+57649A>G (KLRG1)	XP_016874174.1:n.*33+57649A>G
NM_000014.6:c.35T>C (A2M) MANE Select	NP_000005.3:p.Val12Ala
NM_001347423.2:c.35T>C (A2M)	NP_001334352.2:p.Val12Ala
NM_001347424.2:c.-419T>C (A2M)	NP_001334353.2:n.-419T>C
NM_001347425.2:c.-256T>C (A2M)	NP_001334354.2:n.-256T>C