Canonical Allele Identifier: CA232699632

Linked Data

dbSNP Id: rs976807778
gnomAD v2: 12-9268506-A-G
gnomAD v3: 12-9115910-A-G
gnomAD v4: 12-9115910-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115910A>G , CM000674.2:g.9115910A>G GRCh38
NC_000012.11:g.9268506A>G , CM000674.1:g.9268506A>G GRCh37
NC_000012.10:g.9159773A>G NCBI36
NG_011717.1:g.5053T>C
NG_011717.2:g.5053T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.-61T>C (A2M) MANE Select ENSP00000323929.8:n.-61T>C
ENST00000318602.11:c.-61T>C (A2M) ENSP00000323929.7:n.-61T>C
ENST00000404455.2:c.-17-44T>C (A2M) ENSP00000385710.2:n.-17-44T>C
ENST00000467091.1:n.152T>C (A2M)
ENST00000497324.1:n.108T>C (A2M)
NM_000014.4:c.-61T>C (A2M) NP_000005.2:n.-61T>C
XM_006719056.2:c.-61T>C (A2M) XP_006719119.1:n.-61T>C
NM_000014.5:c.-61T>C (A2M) NP_000005.2:n.-61T>C
NM_001347423.1:c.-17-44T>C (A2M) NP_001334352.1:n.-17-44T>C
NM_001347424.1:c.-514T>C (A2M) NP_001334353.1:n.-514T>C
NM_001347425.1:c.-351T>C (A2M) NP_001334354.1:n.-351T>C
XM_006719056.3:c.-61T>C (A2M) XP_006719119.1:n.-61T>C
XM_017018683.1:c.*34-9464A>G (KLRG1) XP_016874172.1:n.*34-9464A>G
XM_017018684.1:c.*34-19176A>G (KLRG1) XP_016874173.1:n.*34-19176A>G
XM_017018685.1:c.*33+57744A>G (KLRG1) XP_016874174.1:n.*33+57744A>G
NM_000014.6:c.-61T>C (A2M) MANE Select NP_000005.3:n.-61T>C
NM_001347423.2:c.-17-44T>C (A2M) NP_001334352.2:n.-17-44T>C
NM_001347424.2:c.-514T>C (A2M) NP_001334353.2:n.-514T>C
NM_001347425.2:c.-351T>C (A2M) NP_001334354.2:n.-351T>C