Canonical Allele Identifier: CA603228536

Linked Data

dbSNP Id: rs893706734
gnomAD v2: 12-9268526-C-G
gnomAD v4: 12-9115930-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115930C>G , CM000674.2:g.9115930C>G GRCh38
NC_000012.11:g.9268526C>G , CM000674.1:g.9268526C>G GRCh37
NC_000012.10:g.9159793C>G NCBI36
NG_011717.1:g.5033G>C
NG_011717.2:g.5033G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-81G>C (A2M) ENSP00000323929.7:n.-81G>C
ENST00000404455.2:c.-17-64G>C (A2M) ENSP00000385710.2:n.-17-64G>C
ENST00000467091.1:n.132G>C (A2M)
ENST00000497324.1:n.88G>C (A2M)
NM_000014.4:c.-81G>C (A2M) NP_000005.2:n.-81G>C
XM_006719056.2:c.-81G>C (A2M) XP_006719119.1:n.-81G>C
NM_000014.5:c.-81G>C (A2M) NP_000005.2:n.-81G>C
NM_001347423.1:c.-17-64G>C (A2M) NP_001334352.1:n.-17-64G>C
NM_001347424.1:c.-534G>C (A2M) NP_001334353.1:n.-534G>C
NM_001347425.1:c.-371G>C (A2M) NP_001334354.1:n.-371G>C
XM_006719056.3:c.-81G>C (A2M) XP_006719119.1:n.-81G>C
XM_017018683.1:c.*34-9444C>G (KLRG1) XP_016874172.1:n.*34-9444C>G
XM_017018684.1:c.*34-19156C>G (KLRG1) XP_016874173.1:n.*34-19156C>G
XM_017018685.1:c.*33+57764C>G (KLRG1) XP_016874174.1:n.*33+57764C>G
NM_001347423.2:c.-17-64G>C (A2M) NP_001334352.2:n.-17-64G>C