Canonical Allele Identifier: CA232676371

Linked Data

dbSNP Id: rs1046114466
gnomAD v2: 12-9242552-A-G
gnomAD v3: 12-9089956-A-G
gnomAD v4: 12-9089956-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9089956A>G , CM000674.2:g.9089956A>G GRCh38
NC_000012.11:g.9242552A>G , CM000674.1:g.9242552A>G GRCh37
NC_000012.10:g.9133819A>G NCBI36
NG_011717.1:g.31007T>C
NG_011717.2:g.31007T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2664T>C (A2M) MANE Select ENSP00000323929.8:p.Pro888=
ENST00000318602.11:c.2664T>C (A2M) ENSP00000323929.7:p.Pro888=
ENST00000462568.1:n.243T>C (A2M)
ENST00000543436.2:n.407T>C (A2M)
ENST00000545828.1:n.348+11594T>C (A2M)
NM_000014.4:c.2664T>C (A2M) NP_000005.2:p.Pro888=
XM_006719056.2:c.2664T>C (A2M) XP_006719119.1:p.Pro888=
NM_000014.5:c.2664T>C (A2M) NP_000005.2:p.Pro888=
NM_001347423.1:c.2664T>C (A2M) NP_001334352.1:p.Pro888=
NM_001347424.1:c.2364T>C (A2M) NP_001334353.1:p.Pro788=
NM_001347425.1:c.2214T>C (A2M) NP_001334354.1:p.Pro738=
XM_006719056.3:c.2664T>C (A2M) XP_006719119.1:p.Pro888=
XM_017018683.1:c.*33+31790A>G (KLRG1) XP_016874172.1:n.*33+31790A>G
XM_017018684.1:c.*33+31790A>G (KLRG1) XP_016874173.1:n.*33+31790A>G
XM_017018685.1:c.*33+31790A>G (KLRG1) XP_016874174.1:n.*33+31790A>G
NM_000014.6:c.2664T>C (A2M) MANE Select NP_000005.3:p.Pro888=
NM_001347423.2:c.2664T>C (A2M) NP_001334352.2:p.Pro888=
NM_001347424.2:c.2364T>C (A2M) NP_001334353.2:p.Pro788=
NM_001347425.2:c.2214T>C (A2M) NP_001334354.2:p.Pro738=