Canonical Allele Identifier: CA232700099

Linked Data

dbSNP Id: rs906167266
gnomAD v2: 12-9268824-A-G
gnomAD v3: 12-9116228-A-G
gnomAD v4: 12-9116228-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116228A>G , CM000674.2:g.9116228A>G GRCh38
NC_000012.11:g.9268824A>G , CM000674.1:g.9268824A>G GRCh37
NC_000012.10:g.9160091A>G NCBI36
NG_011717.1:g.4735T>C
NG_011717.2:g.4735T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404455.2:c.-118T>C (A2M) ENSP00000385710.2:n.-118T>C
NM_000014.5:c.-379T>C (A2M) NP_000005.2:n.-379T>C
NM_001347423.1:c.-118T>C (A2M) NP_001334352.1:n.-118T>C
NM_001347424.1:c.-832T>C (A2M) NP_001334353.1:n.-832T>C
NM_001347425.1:c.-669T>C (A2M) NP_001334354.1:n.-669T>C
XM_017018683.1:c.*34-9146A>G (KLRG1) XP_016874172.1:n.*34-9146A>G
XM_017018684.1:c.*34-18858A>G (KLRG1) XP_016874173.1:n.*34-18858A>G
XM_017018685.1:c.*33+58062A>G (KLRG1) XP_016874174.1:n.*33+58062A>G
NM_001347423.2:c.-118T>C (A2M) NP_001334352.2:n.-118T>C