Canonical Allele Identifier: CA478327484

Linked Data

gnomAD v4: 12-9089953-T-G
MyVariant Identifiers: chr12:g.9242549T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9089953T>G , CM000674.2:g.9089953T>G GRCh38
NC_000012.11:g.9242549T>G , CM000674.1:g.9242549T>G GRCh37
NC_000012.10:g.9133816T>G NCBI36
NG_011717.1:g.31010A>C
NG_011717.2:g.31010A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2667A>C (A2M) MANE Select ENSP00000323929.8:p.Ser889=
ENST00000318602.11:c.2667A>C (A2M) ENSP00000323929.7:p.Ser889=
ENST00000462568.1:n.246A>C (A2M)
ENST00000543436.2:n.410A>C (A2M)
ENST00000545828.1:n.348+11597A>C (A2M)
NM_000014.4:c.2667A>C (A2M) NP_000005.2:p.Ser889=
XM_006719056.2:c.2667A>C (A2M) XP_006719119.1:p.Ser889=
NM_000014.5:c.2667A>C (A2M) NP_000005.2:p.Ser889=
NM_001347423.1:c.2667A>C (A2M) NP_001334352.1:p.Ser889=
NM_001347424.1:c.2367A>C (A2M) NP_001334353.1:p.Ser789=
NM_001347425.1:c.2217A>C (A2M) NP_001334354.1:p.Ser739=
XM_006719056.3:c.2667A>C (A2M) XP_006719119.1:p.Ser889=
XM_017018683.1:c.*33+31787T>G (KLRG1) XP_016874172.1:n.*33+31787T>G
XM_017018684.1:c.*33+31787T>G (KLRG1) XP_016874173.1:n.*33+31787T>G
XM_017018685.1:c.*33+31787T>G (KLRG1) XP_016874174.1:n.*33+31787T>G
NM_000014.6:c.2667A>C (A2M) MANE Select NP_000005.3:p.Ser889=
NM_001347423.2:c.2667A>C (A2M) NP_001334352.2:p.Ser889=
NM_001347424.2:c.2367A>C (A2M) NP_001334353.2:p.Ser789=
NM_001347425.2:c.2217A>C (A2M) NP_001334354.2:p.Ser739=