Canonical Allele Identifier: CA944576216

Linked Data

dbSNP Id: rs1939097262
gnomAD v3: 12-9116062-T-C
gnomAD v4: 12-9116062-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116062T>C , CM000674.2:g.9116062T>C GRCh38
NC_000012.11:g.9268658T>C , CM000674.1:g.9268658T>C GRCh37
NC_000012.10:g.9159925T>C NCBI36
NG_011717.1:g.4901A>G
NG_011717.2:g.4901A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-213A>G (A2M) ENSP00000323929.7:n.-213A>G
ENST00000404455.2:c.-18+66A>G (A2M) ENSP00000385710.2:n.-18+66A>G
NM_000014.5:c.-213A>G (A2M) NP_000005.2:n.-213A>G
NM_001347423.1:c.-18+66A>G (A2M) NP_001334352.1:n.-18+66A>G
NM_001347424.1:c.-666A>G (A2M) NP_001334353.1:n.-666A>G
NM_001347425.1:c.-503A>G (A2M) NP_001334354.1:n.-503A>G
XM_017018683.1:c.*34-9312T>C (KLRG1) XP_016874172.1:n.*34-9312T>C
XM_017018684.1:c.*34-19024T>C (KLRG1) XP_016874173.1:n.*34-19024T>C
XM_017018685.1:c.*33+57896T>C (KLRG1) XP_016874174.1:n.*33+57896T>C
NM_001347423.2:c.-18+66A>G (A2M) NP_001334352.2:n.-18+66A>G