Canonical Allele Identifier: CA2548549696

Linked Data

gnomAD v4: 12-9115988-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115988A>G , CM000674.2:g.9115988A>G GRCh38
NC_000012.11:g.9268584A>G , CM000674.1:g.9268584A>G GRCh37
NC_000012.10:g.9159851A>G NCBI36
NG_011717.1:g.4975T>C
NG_011717.2:g.4975T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-139T>C (A2M) ENSP00000323929.7:n.-139T>C
ENST00000404455.2:c.-17-122T>C (A2M) ENSP00000385710.2:n.-17-122T>C
ENST00000467091.1:n.74T>C (A2M)
ENST00000497324.1:n.30T>C (A2M)
NM_000014.5:c.-139T>C (A2M) NP_000005.2:n.-139T>C
NM_001347423.1:c.-17-122T>C (A2M) NP_001334352.1:n.-17-122T>C
NM_001347424.1:c.-592T>C (A2M) NP_001334353.1:n.-592T>C
NM_001347425.1:c.-429T>C (A2M) NP_001334354.1:n.-429T>C
XM_017018683.1:c.*34-9386A>G (KLRG1) XP_016874172.1:n.*34-9386A>G
XM_017018684.1:c.*34-19098A>G (KLRG1) XP_016874173.1:n.*34-19098A>G
XM_017018685.1:c.*33+57822A>G (KLRG1) XP_016874174.1:n.*33+57822A>G
NM_001347423.2:c.-17-122T>C (A2M) NP_001334352.2:n.-17-122T>C