Canonical Allele Identifier: CA2617534523

Linked Data

gnomAD v4: 12-9115906-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115906A>C , CM000674.2:g.9115906A>C GRCh38
NC_000012.11:g.9268502A>C , CM000674.1:g.9268502A>C GRCh37
NC_000012.10:g.9159769A>C NCBI36
NG_011717.1:g.5057T>G
NG_011717.2:g.5057T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.-57T>G (A2M) MANE Select ENSP00000323929.8:n.-57T>G
ENST00000318602.11:c.-57T>G (A2M) ENSP00000323929.7:n.-57T>G
ENST00000404455.2:c.-17-40T>G (A2M) ENSP00000385710.2:n.-17-40T>G
ENST00000467091.1:n.156T>G (A2M)
ENST00000497324.1:n.112T>G (A2M)
NM_000014.4:c.-57T>G (A2M) NP_000005.2:n.-57T>G
XM_006719056.2:c.-57T>G (A2M) XP_006719119.1:n.-57T>G
NM_000014.5:c.-57T>G (A2M) NP_000005.2:n.-57T>G
NM_001347423.1:c.-17-40T>G (A2M) NP_001334352.1:n.-17-40T>G
NM_001347424.1:c.-510T>G (A2M) NP_001334353.1:n.-510T>G
NM_001347425.1:c.-347T>G (A2M) NP_001334354.1:n.-347T>G
XM_006719056.3:c.-57T>G (A2M) XP_006719119.1:n.-57T>G
XM_017018683.1:c.*34-9468A>C (KLRG1) XP_016874172.1:n.*34-9468A>C
XM_017018684.1:c.*34-19180A>C (KLRG1) XP_016874173.1:n.*34-19180A>C
XM_017018685.1:c.*33+57740A>C (KLRG1) XP_016874174.1:n.*33+57740A>C
NM_000014.6:c.-57T>G (A2M) MANE Select NP_000005.3:n.-57T>G
NM_001347423.2:c.-17-40T>G (A2M) NP_001334352.2:n.-17-40T>G
NM_001347424.2:c.-510T>G (A2M) NP_001334353.2:n.-510T>G
NM_001347425.2:c.-347T>G (A2M) NP_001334354.2:n.-347T>G