Canonical Allele Identifier: CA6439107

Linked Data

dbSNP Id: rs773101648
gnomAD v2: 12-9268534-C-T
gnomAD v3: 12-9115938-C-T
gnomAD v4: 12-9115938-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115938C>T , CM000674.2:g.9115938C>T GRCh38
NC_000012.11:g.9268534C>T , CM000674.1:g.9268534C>T GRCh37
NC_000012.10:g.9159801C>T NCBI36
NG_011717.1:g.5025G>A
NG_011717.2:g.5025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-89G>A (A2M) ENSP00000323929.7:n.-89G>A
ENST00000404455.2:c.-17-72G>A (A2M) ENSP00000385710.2:n.-17-72G>A
ENST00000467091.1:n.124G>A (A2M)
ENST00000497324.1:n.80G>A (A2M)
NM_000014.4:c.-89G>A (A2M) NP_000005.2:n.-89G>A
XM_006719056.2:c.-89G>A (A2M) XP_006719119.1:n.-89G>A
NM_000014.5:c.-89G>A (A2M) NP_000005.2:n.-89G>A
NM_001347423.1:c.-17-72G>A (A2M) NP_001334352.1:n.-17-72G>A
NM_001347424.1:c.-542G>A (A2M) NP_001334353.1:n.-542G>A
NM_001347425.1:c.-379G>A (A2M) NP_001334354.1:n.-379G>A
XM_006719056.3:c.-89G>A (A2M) XP_006719119.1:n.-89G>A
XM_017018683.1:c.*34-9436C>T (KLRG1) XP_016874172.1:n.*34-9436C>T
XM_017018684.1:c.*34-19148C>T (KLRG1) XP_016874173.1:n.*34-19148C>T
XM_017018685.1:c.*33+57772C>T (KLRG1) XP_016874174.1:n.*33+57772C>T
NM_001347423.2:c.-17-72G>A (A2M) NP_001334352.2:n.-17-72G>A