Canonical Allele Identifier: CA383850835

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9104313T>C , CM000674.2:g.9104313T>C GRCh38
NC_000012.11:g.9256909T>C , CM000674.1:g.9256909T>C GRCh37
NC_000012.10:g.9148176T>C NCBI36
NG_011717.1:g.16650A>G
NG_011717.2:g.16650A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000014.6:c.1192A>G (A2M) MANE Select NP_000005.3:p.Thr398Ala
ENST00000318602.12:c.1192A>G (A2M) MANE Select ENSP00000323929.8:p.Thr398Ala
NM_000014.4:c.1192A>G (A2M) NP_000005.2:p.Thr398Ala
NM_000014.5:c.1192A>G (A2M) NP_000005.2:p.Thr398Ala
NM_001347423.1:c.1192A>G (A2M) NP_001334352.1:p.Thr398Ala
NM_001347423.2:c.1192A>G (A2M) NP_001334352.2:p.Thr398Ala
NM_001347424.1:c.892A>G (A2M) NP_001334353.1:p.Thr298Ala
NM_001347424.2:c.892A>G (A2M) NP_001334353.2:p.Thr298Ala
NM_001347425.1:c.742A>G (A2M) NP_001334354.1:p.Thr248Ala
NM_001347425.2:c.742A>G (A2M) NP_001334354.2:p.Thr248Ala
ENST00000318602.11:c.1192A>G (A2M) ENSP00000323929.7:p.Thr398Ala
ENST00000545828.1:n.149A>G (A2M)
XM_006719056.2:c.1192A>G (A2M) XP_006719119.1:p.Thr398Ala
XM_006719056.3:c.1192A>G (A2M) XP_006719119.1:p.Thr398Ala
XM_017018683.1:c.*34-21061T>C (KLRG1) XP_016874172.1:n.*34-21061T>C
XM_017018684.1:c.*34-30773T>C (KLRG1) XP_016874173.1:n.*34-30773T>C
XM_017018685.1:c.*33+46147T>C (KLRG1) XP_016874174.1:n.*33+46147T>C