Canonical Allele Identifier: CA232660468

Linked Data

dbSNP Id: rs1045673304
gnomAD v2: 12-9221151-T-C
gnomAD v3: 12-9068555-T-C
gnomAD v4: 12-9068555-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068555T>C , CM000674.2:g.9068555T>C GRCh38
NC_000012.11:g.9221151T>C , CM000674.1:g.9221151T>C GRCh37
NC_000012.10:g.9112418T>C NCBI36
NG_011717.1:g.52408A>G
NG_011717.2:g.52408A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.4366+185A>G (A2M) MANE Select ENSP00000323929.8:n.4366+185A>G
ENST00000318602.11:c.4366+185A>G (A2M) ENSP00000323929.7:n.4366+185A>G
ENST00000495442.1:n.216+185A>G (A2M)
ENST00000495709.1:n.339+185A>G (A2M)
ENST00000543436.2:n.452-743A>G (A2M)
NM_000014.4:c.4366+185A>G (A2M) NP_000005.2:n.4366+185A>G
XM_006719056.2:c.4366+185A>G (A2M) XP_006719119.1:n.4366+185A>G
NM_000014.5:c.4366+185A>G (A2M) NP_000005.2:n.4366+185A>G
NM_001347423.1:c.4366+185A>G (A2M) NP_001334352.1:n.4366+185A>G
NM_001347424.1:c.4066+185A>G (A2M) NP_001334353.1:n.4066+185A>G
NM_001347425.1:c.3916+185A>G (A2M) NP_001334354.1:n.3916+185A>G
XM_006719056.3:c.4366+185A>G (A2M) XP_006719119.1:n.4366+185A>G
XM_017018683.1:c.*33+10389T>C (KLRG1) XP_016874172.1:n.*33+10389T>C
XM_017018684.1:c.*33+10389T>C (KLRG1) XP_016874173.1:n.*33+10389T>C
XM_017018685.1:c.*33+10389T>C (KLRG1) XP_016874174.1:n.*33+10389T>C
NM_000014.6:c.4366+185A>G (A2M) MANE Select NP_000005.3:n.4366+185A>G
NM_001347423.2:c.4366+185A>G (A2M) NP_001334352.2:n.4366+185A>G
NM_001347424.2:c.4066+185A>G (A2M) NP_001334353.2:n.4066+185A>G
NM_001347425.2:c.3916+185A>G (A2M) NP_001334354.2:n.3916+185A>G