Canonical Allele Identifier: CA383828749

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068770T>G , CM000674.2:g.9068770T>G GRCh38
NC_000012.11:g.9221366T>G , CM000674.1:g.9221366T>G GRCh37
NC_000012.10:g.9112633T>G NCBI36
NG_011717.1:g.52193A>C
NG_011717.2:g.52193A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4336A>C (A2M) MANE Select ENSP00000323929.8:p.Ile1446Leu
ENST00000318602.11:c.4336A>C (A2M) ENSP00000323929.7:p.Ile1446Leu
ENST00000495442.1:n.186A>C (A2M)
ENST00000495709.1:n.309A>C (A2M)
ENST00000543436.2:n.452-958A>C (A2M)
NM_000014.4:c.4336A>C (A2M) NP_000005.2:p.Ile1446Leu
XM_006719056.2:c.4336A>C (A2M) XP_006719119.1:p.Ile1446Leu
NM_000014.5:c.4336A>C (A2M) NP_000005.2:p.Ile1446Leu
NM_001347423.1:c.4336A>C (A2M) NP_001334352.1:p.Ile1446Leu
NM_001347424.1:c.4036A>C (A2M) NP_001334353.1:p.Ile1346Leu
NM_001347425.1:c.3886A>C (A2M) NP_001334354.1:p.Ile1296Leu
XM_006719056.3:c.4336A>C (A2M) XP_006719119.1:p.Ile1446Leu
XM_017018683.1:c.*33+10604T>G (KLRG1) XP_016874172.1:n.*33+10604T>G
XM_017018684.1:c.*33+10604T>G (KLRG1) XP_016874173.1:n.*33+10604T>G
XM_017018685.1:c.*33+10604T>G (KLRG1) XP_016874174.1:n.*33+10604T>G
NM_000014.6:c.4336A>C (A2M) MANE Select NP_000005.3:p.Ile1446Leu
NM_001347423.2:c.4336A>C (A2M) NP_001334352.2:p.Ile1446Leu
NM_001347424.2:c.4036A>C (A2M) NP_001334353.2:p.Ile1346Leu
NM_001347425.2:c.3886A>C (A2M) NP_001334354.2:p.Ile1296Leu