Canonical Allele Identifier: CA13760245

Linked Data

dbSNP Id: rs226379
gnomAD v2: 12-9268585-T-C
gnomAD v3: 12-9115989-T-C
gnomAD v4: 12-9115989-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115989T>C , CM000674.2:g.9115989T>C GRCh38
NC_000012.11:g.9268585T>C , CM000674.1:g.9268585T>C GRCh37
NC_000012.10:g.9159852T>C NCBI36
NG_011717.1:g.4974A>G
NG_011717.2:g.4974A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.11:c.-140A>G (A2M) ENSP00000323929.7:n.-140A>G
ENST00000404455.2:c.-17-123A>G (A2M) ENSP00000385710.2:n.-17-123A>G
ENST00000467091.1:n.73A>G (A2M)
ENST00000497324.1:n.29A>G (A2M)
NM_000014.5:c.-140A>G (A2M) NP_000005.2:n.-140A>G
NM_001347423.1:c.-17-123A>G (A2M) NP_001334352.1:n.-17-123A>G
NM_001347424.1:c.-593A>G (A2M) NP_001334353.1:n.-593A>G
NM_001347425.1:c.-430A>G (A2M) NP_001334354.1:n.-430A>G
XM_017018683.1:c.*34-9385T>C (KLRG1) XP_016874172.1:n.*34-9385T>C
XM_017018684.1:c.*34-19097T>C (KLRG1) XP_016874173.1:n.*34-19097T>C
XM_017018685.1:c.*33+57823T>C (KLRG1) XP_016874174.1:n.*33+57823T>C
NM_001347423.2:c.-17-123A>G (A2M) NP_001334352.2:n.-17-123A>G