Canonical Allele Identifier: CA944576212

Linked Data

dbSNP Id: rs1939095736
gnomAD v3: 12-9116026-A-G
gnomAD v4: 12-9116026-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9116026A>G , CM000674.2:g.9116026A>G GRCh38
NC_000012.11:g.9268622A>G , CM000674.1:g.9268622A>G GRCh37
NC_000012.10:g.9159889A>G NCBI36
NG_011717.1:g.4937T>C
NG_011717.2:g.4937T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-177T>C (A2M) ENSP00000323929.7:n.-177T>C
ENST00000404455.2:c.-18+102T>C (A2M) ENSP00000385710.2:n.-18+102T>C
ENST00000467091.1:n.36T>C (A2M)
NM_000014.5:c.-177T>C (A2M) NP_000005.2:n.-177T>C
NM_001347423.1:c.-18+102T>C (A2M) NP_001334352.1:n.-18+102T>C
NM_001347424.1:c.-630T>C (A2M) NP_001334353.1:n.-630T>C
NM_001347425.1:c.-467T>C (A2M) NP_001334354.1:n.-467T>C
XM_017018683.1:c.*34-9348A>G (KLRG1) XP_016874172.1:n.*34-9348A>G
XM_017018684.1:c.*34-19060A>G (KLRG1) XP_016874173.1:n.*34-19060A>G
XM_017018685.1:c.*33+57860A>G (KLRG1) XP_016874174.1:n.*33+57860A>G
NM_001347423.2:c.-18+102T>C (A2M) NP_001334352.2:n.-18+102T>C