Canonical Allele Identifier: CA6439095

Linked Data

dbSNP Id: rs748569399
gnomAD v2: 12-9268495-C-G
gnomAD v4: 12-9115899-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115899C>G , CM000674.2:g.9115899C>G GRCh38
NC_000012.11:g.9268495C>G , CM000674.1:g.9268495C>G GRCh37
NC_000012.10:g.9159762C>G NCBI36
NG_011717.1:g.5064G>C
NG_011717.2:g.5064G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.-50G>C (A2M) MANE Select ENSP00000323929.8:n.-50G>C
ENST00000318602.11:c.-50G>C (A2M) ENSP00000323929.7:n.-50G>C
ENST00000404455.2:c.-17-33G>C (A2M) ENSP00000385710.2:n.-17-33G>C
ENST00000467091.1:n.163G>C (A2M)
ENST00000497324.1:n.119G>C (A2M)
NM_000014.4:c.-50G>C (A2M) NP_000005.2:n.-50G>C
XM_006719056.2:c.-50G>C (A2M) XP_006719119.1:n.-50G>C
NM_000014.5:c.-50G>C (A2M) NP_000005.2:n.-50G>C
NM_001347423.1:c.-17-33G>C (A2M) NP_001334352.1:n.-17-33G>C
NM_001347424.1:c.-503G>C (A2M) NP_001334353.1:n.-503G>C
NM_001347425.1:c.-340G>C (A2M) NP_001334354.1:n.-340G>C
XM_006719056.3:c.-50G>C (A2M) XP_006719119.1:n.-50G>C
XM_017018683.1:c.*34-9475C>G (KLRG1) XP_016874172.1:n.*34-9475C>G
XM_017018684.1:c.*34-19187C>G (KLRG1) XP_016874173.1:n.*34-19187C>G
XM_017018685.1:c.*33+57733C>G (KLRG1) XP_016874174.1:n.*33+57733C>G
NM_000014.6:c.-50G>C (A2M) MANE Select NP_000005.3:n.-50G>C
NM_001347423.2:c.-17-33G>C (A2M) NP_001334352.2:n.-17-33G>C
NM_001347424.2:c.-503G>C (A2M) NP_001334353.2:n.-503G>C
NM_001347425.2:c.-340G>C (A2M) NP_001334354.2:n.-340G>C