Canonical Allele Identifier: CA478327532

Linked Data

gnomAD v4: 12-9089965-A-C
MyVariant Identifiers: chr12:g.9242561A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9089965A>C , CM000674.2:g.9089965A>C GRCh38
NC_000012.11:g.9242561A>C , CM000674.1:g.9242561A>C GRCh37
NC_000012.10:g.9133828A>C NCBI36
NG_011717.1:g.30998T>G
NG_011717.2:g.30998T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2655T>G (A2M) MANE Select ENSP00000323929.8:p.Thr885=
ENST00000318602.11:c.2655T>G (A2M) ENSP00000323929.7:p.Thr885=
ENST00000462568.1:n.234T>G (A2M)
ENST00000543436.2:n.398T>G (A2M)
ENST00000545828.1:n.348+11585T>G (A2M)
NM_000014.4:c.2655T>G (A2M) NP_000005.2:p.Thr885=
XM_006719056.2:c.2655T>G (A2M) XP_006719119.1:p.Thr885=
NM_000014.5:c.2655T>G (A2M) NP_000005.2:p.Thr885=
NM_001347423.1:c.2655T>G (A2M) NP_001334352.1:p.Thr885=
NM_001347424.1:c.2355T>G (A2M) NP_001334353.1:p.Thr785=
NM_001347425.1:c.2205T>G (A2M) NP_001334354.1:p.Thr735=
XM_006719056.3:c.2655T>G (A2M) XP_006719119.1:p.Thr885=
XM_017018683.1:c.*33+31799A>C (KLRG1) XP_016874172.1:n.*33+31799A>C
XM_017018684.1:c.*33+31799A>C (KLRG1) XP_016874173.1:n.*33+31799A>C
XM_017018685.1:c.*33+31799A>C (KLRG1) XP_016874174.1:n.*33+31799A>C
NM_000014.6:c.2655T>G (A2M) MANE Select NP_000005.3:p.Thr885=
NM_001347423.2:c.2655T>G (A2M) NP_001334352.2:p.Thr885=
NM_001347424.2:c.2355T>G (A2M) NP_001334353.2:p.Thr785=
NM_001347425.2:c.2205T>G (A2M) NP_001334354.2:p.Thr735=