Canonical Allele Identifier: CA478316630

Linked Data

MyVariant Identifiers: chr12:g.9221361C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068765C>A , CM000674.2:g.9068765C>A GRCh38
NC_000012.11:g.9221361C>A , CM000674.1:g.9221361C>A GRCh37
NC_000012.10:g.9112628C>A NCBI36
NG_011717.1:g.52198G>T
NG_011717.2:g.52198G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.4341G>T (A2M) MANE Select ENSP00000323929.8:p.Val1447=
ENST00000318602.11:c.4341G>T (A2M) ENSP00000323929.7:p.Val1447=
ENST00000495442.1:n.191G>T (A2M)
ENST00000495709.1:n.314G>T (A2M)
ENST00000543436.2:n.452-953G>T (A2M)
NM_000014.4:c.4341G>T (A2M) NP_000005.2:p.Val1447=
XM_006719056.2:c.4341G>T (A2M) XP_006719119.1:p.Val1447=
NM_000014.5:c.4341G>T (A2M) NP_000005.2:p.Val1447=
NM_001347423.1:c.4341G>T (A2M) NP_001334352.1:p.Val1447=
NM_001347424.1:c.4041G>T (A2M) NP_001334353.1:p.Val1347=
NM_001347425.1:c.3891G>T (A2M) NP_001334354.1:p.Val1297=
XM_006719056.3:c.4341G>T (A2M) XP_006719119.1:p.Val1447=
XM_017018683.1:c.*33+10599C>A (KLRG1) XP_016874172.1:n.*33+10599C>A
XM_017018684.1:c.*33+10599C>A (KLRG1) XP_016874173.1:n.*33+10599C>A
XM_017018685.1:c.*33+10599C>A (KLRG1) XP_016874174.1:n.*33+10599C>A
NM_000014.6:c.4341G>T (A2M) MANE Select NP_000005.3:p.Val1447=
NM_001347423.2:c.4341G>T (A2M) NP_001334352.2:p.Val1447=
NM_001347424.2:c.4041G>T (A2M) NP_001334353.2:p.Val1347=
NM_001347425.2:c.3891G>T (A2M) NP_001334354.2:p.Val1297=