Canonical Allele Identifier: CA478323109

Linked Data

MyVariant Identifiers: chr12:g.9232272T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079676T>G , CM000674.2:g.9079676T>G GRCh38
NC_000012.11:g.9232272T>G , CM000674.1:g.9232272T>G GRCh37
NC_000012.10:g.9123539T>G NCBI36
NG_011717.1:g.41287A>C
NG_011717.2:g.41287A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.2994A>C (A2M) MANE Select ENSP00000323929.8:p.Pro998=
ENST00000318602.11:c.2994A>C (A2M) ENSP00000323929.7:p.Pro998=
ENST00000542567.1:n.349A>C (A2M)
ENST00000543436.2:n.451+10236A>C (A2M)
ENST00000545828.1:n.349-6955A>C (A2M)
NM_000014.4:c.2994A>C (A2M) NP_000005.2:p.Pro998=
XM_006719056.2:c.2994A>C (A2M) XP_006719119.1:p.Pro998=
NM_000014.5:c.2994A>C (A2M) NP_000005.2:p.Pro998=
NM_001347423.1:c.2994A>C (A2M) NP_001334352.1:p.Pro998=
NM_001347424.1:c.2694A>C (A2M) NP_001334353.1:p.Pro898=
NM_001347425.1:c.2544A>C (A2M) NP_001334354.1:p.Pro848=
XM_006719056.3:c.2994A>C (A2M) XP_006719119.1:p.Pro998=
XM_017018683.1:c.*33+21510T>G (KLRG1) XP_016874172.1:n.*33+21510T>G
XM_017018684.1:c.*33+21510T>G (KLRG1) XP_016874173.1:n.*33+21510T>G
XM_017018685.1:c.*33+21510T>G (KLRG1) XP_016874174.1:n.*33+21510T>G
NM_000014.6:c.2994A>C (A2M) MANE Select NP_000005.3:p.Pro998=
NM_001347423.2:c.2994A>C (A2M) NP_001334352.2:p.Pro998=
NM_001347424.2:c.2694A>C (A2M) NP_001334353.2:p.Pro898=
NM_001347425.2:c.2544A>C (A2M) NP_001334354.2:p.Pro848=