Canonical Allele Identifier: CA6437895

Linked Data

dbSNP Id: rs201382604
gnomAD v2: 12-9221353-T-C
gnomAD v3: 12-9068757-T-C
gnomAD v4: 12-9068757-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068757T>C , CM000674.2:g.9068757T>C GRCh38
NC_000012.11:g.9221353T>C , CM000674.1:g.9221353T>C GRCh37
NC_000012.10:g.9112620T>C NCBI36
NG_011717.1:g.52206A>G
NG_011717.2:g.52206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4349A>G (A2M) MANE Select ENSP00000323929.8:p.Tyr1450Cys
ENST00000318602.11:c.4349A>G (A2M) ENSP00000323929.7:p.Tyr1450Cys
ENST00000495442.1:n.199A>G (A2M)
ENST00000495709.1:n.322A>G (A2M)
ENST00000543436.2:n.452-945A>G (A2M)
NM_000014.4:c.4349A>G (A2M) NP_000005.2:p.Tyr1450Cys
XM_006719056.2:c.4349A>G (A2M) XP_006719119.1:p.Tyr1450Cys
NM_000014.5:c.4349A>G (A2M) NP_000005.2:p.Tyr1450Cys
NM_001347423.1:c.4349A>G (A2M) NP_001334352.1:p.Tyr1450Cys
NM_001347424.1:c.4049A>G (A2M) NP_001334353.1:p.Tyr1350Cys
NM_001347425.1:c.3899A>G (A2M) NP_001334354.1:p.Tyr1300Cys
XM_006719056.3:c.4349A>G (A2M) XP_006719119.1:p.Tyr1450Cys
XM_017018683.1:c.*33+10591T>C (KLRG1) XP_016874172.1:n.*33+10591T>C
XM_017018684.1:c.*33+10591T>C (KLRG1) XP_016874173.1:n.*33+10591T>C
XM_017018685.1:c.*33+10591T>C (KLRG1) XP_016874174.1:n.*33+10591T>C
NM_000014.6:c.4349A>G (A2M) MANE Select NP_000005.3:p.Tyr1450Cys
NM_001347423.2:c.4349A>G (A2M) NP_001334352.2:p.Tyr1450Cys
NM_001347424.2:c.4049A>G (A2M) NP_001334353.2:p.Tyr1350Cys
NM_001347425.2:c.3899A>G (A2M) NP_001334354.2:p.Tyr1300Cys