Canonical Allele Identifier: CA383840125

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9080106C>A , CM000674.2:g.9080106C>A GRCh38
NC_000012.11:g.9232702C>A , CM000674.1:g.9232702C>A GRCh37
NC_000012.10:g.9123969C>A NCBI36
NG_011717.1:g.40857G>T
NG_011717.2:g.40857G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000014.6:c.2842G>T (A2M) MANE Select NP_000005.3:p.Val948Phe
ENST00000318602.12:c.2842G>T (A2M) MANE Select ENSP00000323929.8:p.Val948Phe
NM_000014.4:c.2842G>T (A2M) NP_000005.2:p.Val948Phe
NM_000014.5:c.2842G>T (A2M) NP_000005.2:p.Val948Phe
NM_001347423.1:c.2842G>T (A2M) NP_001334352.1:p.Val948Phe
NM_001347423.2:c.2842G>T (A2M) NP_001334352.2:p.Val948Phe
NM_001347424.1:c.2542G>T (A2M) NP_001334353.1:p.Val848Phe
NM_001347424.2:c.2542G>T (A2M) NP_001334353.2:p.Val848Phe
NM_001347425.1:c.2392G>T (A2M) NP_001334354.1:p.Val798Phe
NM_001347425.2:c.2392G>T (A2M) NP_001334354.2:p.Val798Phe
ENST00000318602.11:c.2842G>T (A2M) ENSP00000323929.7:p.Val948Phe
ENST00000462568.1:n.421G>T (A2M)
ENST00000542567.1:n.197G>T (A2M)
ENST00000543436.2:n.451+9806G>T (A2M)
ENST00000545828.1:n.349-7385G>T (A2M)
XM_006719056.2:c.2842G>T (A2M) XP_006719119.1:p.Val948Phe
XM_006719056.3:c.2842G>T (A2M) XP_006719119.1:p.Val948Phe
XM_017018683.1:c.*33+21940C>A (KLRG1) XP_016874172.1:n.*33+21940C>A
XM_017018684.1:c.*33+21940C>A (KLRG1) XP_016874173.1:n.*33+21940C>A
XM_017018685.1:c.*33+21940C>A (KLRG1) XP_016874174.1:n.*33+21940C>A