Canonical Allele Identifier: CA2617534613

Linked Data

gnomAD v4: 12-9115983-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115983A>C , CM000674.2:g.9115983A>C GRCh38
NC_000012.11:g.9268579A>C , CM000674.1:g.9268579A>C GRCh37
NC_000012.10:g.9159846A>C NCBI36
NG_011717.1:g.4980T>G
NG_011717.2:g.4980T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-134T>G (A2M) ENSP00000323929.7:n.-134T>G
ENST00000404455.2:c.-17-117T>G (A2M) ENSP00000385710.2:n.-17-117T>G
ENST00000467091.1:n.79T>G (A2M)
ENST00000497324.1:n.35T>G (A2M)
NM_000014.5:c.-134T>G (A2M) NP_000005.2:n.-134T>G
NM_001347423.1:c.-17-117T>G (A2M) NP_001334352.1:n.-17-117T>G
NM_001347424.1:c.-587T>G (A2M) NP_001334353.1:n.-587T>G
NM_001347425.1:c.-424T>G (A2M) NP_001334354.1:n.-424T>G
XM_017018683.1:c.*34-9391A>C (KLRG1) XP_016874172.1:n.*34-9391A>C
XM_017018684.1:c.*34-19103A>C (KLRG1) XP_016874173.1:n.*34-19103A>C
XM_017018685.1:c.*33+57817A>C (KLRG1) XP_016874174.1:n.*33+57817A>C
NM_001347423.2:c.-17-117T>G (A2M) NP_001334352.2:n.-17-117T>G