Canonical Allele Identifier: CA478316622

Gene: A2M KLRG1

Linked Data

• gnomAD v4: 12-9068759-G-T
• MyVariant Identifiers: chr12:g.9221355G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9068759G>T , CM000674.2:g.9068759G>T	GRCh38
NC_000012.11:g.9221355G>T , CM000674.1:g.9221355G>T	GRCh37
NC_000012.10:g.9112622G>T	NCBI36
NG_011717.1:g.52204C>A
NG_011717.2:g.52204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318602.12:c.4347C>A (A2M) MANE Select	ENSP00000323929.8:p.Val1449=
ENST00000318602.11:c.4347C>A (A2M)	ENSP00000323929.7:p.Val1449=
ENST00000495442.1:n.197C>A (A2M)
ENST00000495709.1:n.320C>A (A2M)
ENST00000543436.2:n.452-947C>A (A2M)
NM_000014.4:c.4347C>A (A2M)	NP_000005.2:p.Val1449=
XM_006719056.2:c.4347C>A (A2M)	XP_006719119.1:p.Val1449=
NM_000014.5:c.4347C>A (A2M)	NP_000005.2:p.Val1449=
NM_001347423.1:c.4347C>A (A2M)	NP_001334352.1:p.Val1449=
NM_001347424.1:c.4047C>A (A2M)	NP_001334353.1:p.Val1349=
NM_001347425.1:c.3897C>A (A2M)	NP_001334354.1:p.Val1299=
XM_006719056.3:c.4347C>A (A2M)	XP_006719119.1:p.Val1449=
XM_017018683.1:c.*33+10593G>T (KLRG1)	XP_016874172.1:n.*33+10593G>T
XM_017018684.1:c.*33+10593G>T (KLRG1)	XP_016874173.1:n.*33+10593G>T
XM_017018685.1:c.*33+10593G>T (KLRG1)	XP_016874174.1:n.*33+10593G>T
NM_000014.6:c.4347C>A (A2M) MANE Select	NP_000005.3:p.Val1449=
NM_001347423.2:c.4347C>A (A2M)	NP_001334352.2:p.Val1449=
NM_001347424.2:c.4047C>A (A2M)	NP_001334353.2:p.Val1349=
NM_001347425.2:c.3897C>A (A2M)	NP_001334354.2:p.Val1299=