Canonical Allele Identifier: CA383855130

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115810G>C , CM000674.2:g.9115810G>C GRCh38
NC_000012.11:g.9268406G>C , CM000674.1:g.9268406G>C GRCh37
NC_000012.10:g.9159673G>C NCBI36
NG_011717.1:g.5153C>G
NG_011717.2:g.5153C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.40C>G (A2M) MANE Select ENSP00000323929.8:p.Leu14Val
ENST00000318602.11:c.40C>G (A2M) ENSP00000323929.7:p.Leu14Val
ENST00000404455.2:c.40C>G (A2M) ENSP00000385710.2:p.Leu14Val
ENST00000467091.1:n.252C>G (A2M)
ENST00000497324.1:n.208C>G (A2M)
ENST00000539638.5:c.40C>G (A2M) ENSP00000445717.1:p.Leu14Val
NM_000014.4:c.40C>G (A2M) NP_000005.2:p.Leu14Val
XM_006719056.2:c.40C>G (A2M) XP_006719119.1:p.Leu14Val
NM_000014.5:c.40C>G (A2M) NP_000005.2:p.Leu14Val
NM_001347423.1:c.40C>G (A2M) NP_001334352.1:p.Leu14Val
NM_001347424.1:c.-414C>G (A2M) NP_001334353.1:n.-414C>G
NM_001347425.1:c.-251C>G (A2M) NP_001334354.1:n.-251C>G
XM_006719056.3:c.40C>G (A2M) XP_006719119.1:p.Leu14Val
XM_017018683.1:c.*34-9564G>C (KLRG1) XP_016874172.1:n.*34-9564G>C
XM_017018684.1:c.*34-19276G>C (KLRG1) XP_016874173.1:n.*34-19276G>C
XM_017018685.1:c.*33+57644G>C (KLRG1) XP_016874174.1:n.*33+57644G>C
NM_000014.6:c.40C>G (A2M) MANE Select NP_000005.3:p.Leu14Val
NM_001347423.2:c.40C>G (A2M) NP_001334352.2:p.Leu14Val
NM_001347424.2:c.-414C>G (A2M) NP_001334353.2:n.-414C>G
NM_001347425.2:c.-251C>G (A2M) NP_001334354.2:n.-251C>G