Canonical Allele Identifier: CA603217044

Linked Data

dbSNP Id: rs1432928977
gnomAD v2: 12-9221310-T-G
gnomAD v4: 12-9068714-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068714T>G , CM000674.2:g.9068714T>G GRCh38
NC_000012.11:g.9221310T>G , CM000674.1:g.9221310T>G GRCh37
NC_000012.10:g.9112577T>G NCBI36
NG_011717.1:g.52249A>C
NG_011717.2:g.52249A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4366+26A>C (A2M) MANE Select ENSP00000323929.8:n.4366+26A>C
ENST00000318602.11:c.4366+26A>C (A2M) ENSP00000323929.7:n.4366+26A>C
ENST00000495442.1:n.216+26A>C (A2M)
ENST00000495709.1:n.339+26A>C (A2M)
ENST00000543436.2:n.452-902A>C (A2M)
NM_000014.4:c.4366+26A>C (A2M) NP_000005.2:n.4366+26A>C
XM_006719056.2:c.4366+26A>C (A2M) XP_006719119.1:n.4366+26A>C
NM_000014.5:c.4366+26A>C (A2M) NP_000005.2:n.4366+26A>C
NM_001347423.1:c.4366+26A>C (A2M) NP_001334352.1:n.4366+26A>C
NM_001347424.1:c.4066+26A>C (A2M) NP_001334353.1:n.4066+26A>C
NM_001347425.1:c.3916+26A>C (A2M) NP_001334354.1:n.3916+26A>C
XM_006719056.3:c.4366+26A>C (A2M) XP_006719119.1:n.4366+26A>C
XM_017018683.1:c.*33+10548T>G (KLRG1) XP_016874172.1:n.*33+10548T>G
XM_017018684.1:c.*33+10548T>G (KLRG1) XP_016874173.1:n.*33+10548T>G
XM_017018685.1:c.*33+10548T>G (KLRG1) XP_016874174.1:n.*33+10548T>G
NM_000014.6:c.4366+26A>C (A2M) MANE Select NP_000005.3:n.4366+26A>C
NM_001347423.2:c.4366+26A>C (A2M) NP_001334352.2:n.4366+26A>C
NM_001347424.2:c.4066+26A>C (A2M) NP_001334353.2:n.4066+26A>C
NM_001347425.2:c.3916+26A>C (A2M) NP_001334354.2:n.3916+26A>C