Canonical Allele Identifier: CA2015347086

Linked Data

dbSNP Id: rs1939099979
gnomAD v4: 12-9116108-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116108C>T , CM000674.2:g.9116108C>T GRCh38
NC_000012.11:g.9268704C>T , CM000674.1:g.9268704C>T GRCh37
NC_000012.10:g.9159971C>T NCBI36
NG_011717.1:g.4855G>A
NG_011717.2:g.4855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-259G>A (A2M) ENSP00000323929.7:n.-259G>A
ENST00000404455.2:c.-18+20G>A (A2M) ENSP00000385710.2:n.-18+20G>A
NM_000014.5:c.-259G>A (A2M) NP_000005.2:n.-259G>A
NM_001347423.1:c.-18+20G>A (A2M) NP_001334352.1:n.-18+20G>A
NM_001347424.1:c.-712G>A (A2M) NP_001334353.1:n.-712G>A
NM_001347425.1:c.-549G>A (A2M) NP_001334354.1:n.-549G>A
XM_017018683.1:c.*34-9266C>T (KLRG1) XP_016874172.1:n.*34-9266C>T
XM_017018684.1:c.*34-18978C>T (KLRG1) XP_016874173.1:n.*34-18978C>T
XM_017018685.1:c.*33+57942C>T (KLRG1) XP_016874174.1:n.*33+57942C>T
NM_001347423.2:c.-18+20G>A (A2M) NP_001334352.2:n.-18+20G>A