Canonical Allele Identifier: CA603228260

Linked Data

dbSNP Id: rs1290556141
gnomAD v2: 12-9268478-C-T
gnomAD v4: 12-9115882-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115882C>T , CM000674.2:g.9115882C>T GRCh38
NC_000012.11:g.9268478C>T , CM000674.1:g.9268478C>T GRCh37
NC_000012.10:g.9159745C>T NCBI36
NG_011717.1:g.5081G>A
NG_011717.2:g.5081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.-33G>A (A2M) MANE Select ENSP00000323929.8:n.-33G>A
ENST00000318602.11:c.-33G>A (A2M) ENSP00000323929.7:n.-33G>A
ENST00000404455.2:c.-17-16G>A (A2M) ENSP00000385710.2:n.-17-16G>A
ENST00000467091.1:n.180G>A (A2M)
ENST00000497324.1:n.136G>A (A2M)
NM_000014.4:c.-33G>A (A2M) NP_000005.2:n.-33G>A
XM_006719056.2:c.-33G>A (A2M) XP_006719119.1:n.-33G>A
NM_000014.5:c.-33G>A (A2M) NP_000005.2:n.-33G>A
NM_001347423.1:c.-17-16G>A (A2M) NP_001334352.1:n.-17-16G>A
NM_001347424.1:c.-486G>A (A2M) NP_001334353.1:n.-486G>A
NM_001347425.1:c.-323G>A (A2M) NP_001334354.1:n.-323G>A
XM_006719056.3:c.-33G>A (A2M) XP_006719119.1:n.-33G>A
XM_017018683.1:c.*34-9492C>T (KLRG1) XP_016874172.1:n.*34-9492C>T
XM_017018684.1:c.*34-19204C>T (KLRG1) XP_016874173.1:n.*34-19204C>T
XM_017018685.1:c.*33+57716C>T (KLRG1) XP_016874174.1:n.*33+57716C>T
NM_000014.6:c.-33G>A (A2M) MANE Select NP_000005.3:n.-33G>A
NM_001347423.2:c.-17-16G>A (A2M) NP_001334352.2:n.-17-16G>A
NM_001347424.2:c.-486G>A (A2M) NP_001334353.2:n.-486G>A
NM_001347425.2:c.-323G>A (A2M) NP_001334354.2:n.-323G>A