Canonical Allele Identifier: CA232699780

Linked Data

dbSNP Id: rs192787705
gnomAD v3: 12-9115952-G-T
gnomAD v4: 12-9115952-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115952G>T , CM000674.2:g.9115952G>T GRCh38
NC_000012.11:g.9268548G>T , CM000674.1:g.9268548G>T GRCh37
NC_000012.10:g.9159815G>T NCBI36
NG_011717.1:g.5011C>A
NG_011717.2:g.5011C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-103C>A (A2M) ENSP00000323929.7:n.-103C>A
ENST00000404455.2:c.-17-86C>A (A2M) ENSP00000385710.2:n.-17-86C>A
ENST00000467091.1:n.110C>A (A2M)
ENST00000497324.1:n.66C>A (A2M)
NM_000014.4:c.-103C>A (A2M) NP_000005.2:n.-103C>A
NM_000014.5:c.-103C>A (A2M) NP_000005.2:n.-103C>A
NM_001347423.1:c.-17-86C>A (A2M) NP_001334352.1:n.-17-86C>A
NM_001347424.1:c.-556C>A (A2M) NP_001334353.1:n.-556C>A
NM_001347425.1:c.-393C>A (A2M) NP_001334354.1:n.-393C>A
XM_017018683.1:c.*34-9422G>T (KLRG1) XP_016874172.1:n.*34-9422G>T
XM_017018684.1:c.*34-19134G>T (KLRG1) XP_016874173.1:n.*34-19134G>T
XM_017018685.1:c.*33+57786G>T (KLRG1) XP_016874174.1:n.*33+57786G>T
NM_001347423.2:c.-17-86C>A (A2M) NP_001334352.2:n.-17-86C>A