Canonical Allele Identifier: CA127865

Gene: A2M KLRG1

Linked Data

• ClinVar Variation Id: 402328
• ClinVar RCV Id: RCV000019807 ; RCV000454529 ; RCV001724005
• dbSNP Id: rs1799759
• ExAC: 12:9246176 CTATGG / C
• gnomAD v2: 12-9246176-CTATGG-C
• gnomAD v3: 12-9093580-CTATGG-C
• gnomAD v4: 12-9093580-CTATGG-C
• COSMIC: COSM3737128 ; COSM5827324
• MyVariant Identifiers: chr12:g.9246178_9246182del (hg19) ; chr12:g.9246177_9246181del (hg19) ; chr12:g.9093582_9093586del (hg38) ; chr12:g.9093581_9093585del (hg38)
• PubMed: PMID:1717945 ; PMID:9697696

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.9093582_9093586del , CM000674.2:g.9093582_9093586del	GRCh38
NC_000012.11:g.9246178_9246182del , CM000674.1:g.9246178_9246182del	GRCh37
NC_000012.10:g.9137445_9137449del	NCBI36
NG_011717.1:g.27378_27382del
NG_011717.2:g.27378_27382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318602.12:c.2126-6_2126-2del (A2M) MANE Select	ENSP00000323929.8:n.2126-6_2126-2del
ENST00000318602.11:c.2126-6_2126-2del (A2M)	ENSP00000323929.7:n.2126-6_2126-2del
ENST00000545828.1:n.348+7965_348+7969del (A2M)
ENST00000546069.1:c.445-6_445-2del (A2M)	ENSP00000438599.1:n.445-6_445-2del
NM_000014.4:c.2126-6_2126-2del (A2M)	NP_000005.2:n.2126-6_2126-2del
XM_006719056.2:c.2126-6_2126-2del (A2M)	XP_006719119.1:n.2126-6_2126-2del
NM_000014.5:c.2126-6_2126-2del (A2M)	NP_000005.2:n.2126-6_2126-2del
NM_001347423.1:c.2126-6_2126-2del (A2M)	NP_001334352.1:n.2126-6_2126-2del
NM_001347424.1:c.1826-6_1826-2del (A2M)	NP_001334353.1:n.1826-6_1826-2del
NM_001347425.1:c.1676-6_1676-2del (A2M)	NP_001334354.1:n.1676-6_1676-2del
XM_006719056.3:c.2126-6_2126-2del (A2M)	XP_006719119.1:n.2126-6_2126-2del
XM_017018683.1:c.*34-31792_*34-31788del (KLRG1)	XP_016874172.1:n.*34-31792_*34-31788del
XM_017018684.1:c.*33+35416_*33+35420del (KLRG1)	XP_016874173.1:n.*33+35416_*33+35420del
XM_017018685.1:c.*33+35416_*33+35420del (KLRG1)	XP_016874174.1:n.*33+35416_*33+35420del
NM_000014.6:c.2126-6_2126-2del (A2M) MANE Select	NP_000005.3:n.2126-6_2126-2del
NM_001347423.2:c.2126-6_2126-2del (A2M)	NP_001334352.2:n.2126-6_2126-2del
NM_001347424.2:c.1826-6_1826-2del (A2M)	NP_001334353.2:n.1826-6_1826-2del
NM_001347425.2:c.1676-6_1676-2del (A2M)	NP_001334354.2:n.1676-6_1676-2del