Canonical Allele Identifier: CA6437890

Linked Data

dbSNP Id: rs376343602
gnomAD v2: 12-9221338-G-C
gnomAD v4: 12-9068742-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068742G>C , CM000674.2:g.9068742G>C GRCh38
NC_000012.11:g.9221338G>C , CM000674.1:g.9221338G>C GRCh37
NC_000012.10:g.9112605G>C NCBI36
NG_011717.1:g.52221C>G
NG_011717.2:g.52221C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4364C>G (A2M) MANE Select ENSP00000323929.8:p.Thr1455Arg
ENST00000318602.11:c.4364C>G (A2M) ENSP00000323929.7:p.Thr1455Arg
ENST00000495442.1:n.214C>G (A2M)
ENST00000495709.1:n.337C>G (A2M)
ENST00000543436.2:n.452-930C>G (A2M)
NM_000014.4:c.4364C>G (A2M) NP_000005.2:p.Thr1455Arg
XM_006719056.2:c.4364C>G (A2M) XP_006719119.1:p.Thr1455Arg
NM_000014.5:c.4364C>G (A2M) NP_000005.2:p.Thr1455Arg
NM_001347423.1:c.4364C>G (A2M) NP_001334352.1:p.Thr1455Arg
NM_001347424.1:c.4064C>G (A2M) NP_001334353.1:p.Thr1355Arg
NM_001347425.1:c.3914C>G (A2M) NP_001334354.1:p.Thr1305Arg
XM_006719056.3:c.4364C>G (A2M) XP_006719119.1:p.Thr1455Arg
XM_017018683.1:c.*33+10576G>C (KLRG1) XP_016874172.1:n.*33+10576G>C
XM_017018684.1:c.*33+10576G>C (KLRG1) XP_016874173.1:n.*33+10576G>C
XM_017018685.1:c.*33+10576G>C (KLRG1) XP_016874174.1:n.*33+10576G>C
NM_000014.6:c.4364C>G (A2M) MANE Select NP_000005.3:p.Thr1455Arg
NM_001347423.2:c.4364C>G (A2M) NP_001334352.2:p.Thr1455Arg
NM_001347424.2:c.4064C>G (A2M) NP_001334353.2:p.Thr1355Arg
NM_001347425.2:c.3914C>G (A2M) NP_001334354.2:p.Thr1305Arg