Canonical Allele Identifier: CA383839112

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079648G>A , CM000674.2:g.9079648G>A GRCh38
NC_000012.11:g.9232244G>A , CM000674.1:g.9232244G>A GRCh37
NC_000012.10:g.9123511G>A NCBI36
NG_011717.1:g.41315C>T
NG_011717.2:g.41315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.3022C>T (A2M) MANE Select ENSP00000323929.8:p.Leu1008Phe
ENST00000318602.11:c.3022C>T (A2M) ENSP00000323929.7:p.Leu1008Phe
ENST00000542567.1:n.377C>T (A2M)
ENST00000543436.2:n.451+10264C>T (A2M)
ENST00000545828.1:n.349-6927C>T (A2M)
NM_000014.4:c.3022C>T (A2M) NP_000005.2:p.Leu1008Phe
XM_006719056.2:c.3022C>T (A2M) XP_006719119.1:p.Leu1008Phe
NM_000014.5:c.3022C>T (A2M) NP_000005.2:p.Leu1008Phe
NM_001347423.1:c.3022C>T (A2M) NP_001334352.1:p.Leu1008Phe
NM_001347424.1:c.2722C>T (A2M) NP_001334353.1:p.Leu908Phe
NM_001347425.1:c.2572C>T (A2M) NP_001334354.1:p.Leu858Phe
XM_006719056.3:c.3022C>T (A2M) XP_006719119.1:p.Leu1008Phe
XM_017018683.1:c.*33+21482G>A (KLRG1) XP_016874172.1:n.*33+21482G>A
XM_017018684.1:c.*33+21482G>A (KLRG1) XP_016874173.1:n.*33+21482G>A
XM_017018685.1:c.*33+21482G>A (KLRG1) XP_016874174.1:n.*33+21482G>A
NM_000014.6:c.3022C>T (A2M) MANE Select NP_000005.3:p.Leu1008Phe
NM_001347423.2:c.3022C>T (A2M) NP_001334352.2:p.Leu1008Phe
NM_001347424.2:c.2722C>T (A2M) NP_001334353.2:p.Leu908Phe
NM_001347425.2:c.2572C>T (A2M) NP_001334354.2:p.Leu858Phe