Canonical Allele Identifier: CA383828730

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068767C>T , CM000674.2:g.9068767C>T GRCh38
NC_000012.11:g.9221363C>T , CM000674.1:g.9221363C>T GRCh37
NC_000012.10:g.9112630C>T NCBI36
NG_011717.1:g.52196G>A
NG_011717.2:g.52196G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4339G>A (A2M) MANE Select ENSP00000323929.8:p.Val1447Met
ENST00000318602.11:c.4339G>A (A2M) ENSP00000323929.7:p.Val1447Met
ENST00000495442.1:n.189G>A (A2M)
ENST00000495709.1:n.312G>A (A2M)
ENST00000543436.2:n.452-955G>A (A2M)
NM_000014.4:c.4339G>A (A2M) NP_000005.2:p.Val1447Met
XM_006719056.2:c.4339G>A (A2M) XP_006719119.1:p.Val1447Met
NM_000014.5:c.4339G>A (A2M) NP_000005.2:p.Val1447Met
NM_001347423.1:c.4339G>A (A2M) NP_001334352.1:p.Val1447Met
NM_001347424.1:c.4039G>A (A2M) NP_001334353.1:p.Val1347Met
NM_001347425.1:c.3889G>A (A2M) NP_001334354.1:p.Val1297Met
XM_006719056.3:c.4339G>A (A2M) XP_006719119.1:p.Val1447Met
XM_017018683.1:c.*33+10601C>T (KLRG1) XP_016874172.1:n.*33+10601C>T
XM_017018684.1:c.*33+10601C>T (KLRG1) XP_016874173.1:n.*33+10601C>T
XM_017018685.1:c.*33+10601C>T (KLRG1) XP_016874174.1:n.*33+10601C>T
NM_000014.6:c.4339G>A (A2M) MANE Select NP_000005.3:p.Val1447Met
NM_001347423.2:c.4339G>A (A2M) NP_001334352.2:p.Val1447Met
NM_001347424.2:c.4039G>A (A2M) NP_001334353.2:p.Val1347Met
NM_001347425.2:c.3889G>A (A2M) NP_001334354.2:p.Val1297Met