Canonical Allele Identifier: CA2015347018

Linked Data

dbSNP Id: rs1592404375
gnomAD v4: 12-9115941-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115941G>A , CM000674.2:g.9115941G>A GRCh38
NC_000012.11:g.9268537G>A , CM000674.1:g.9268537G>A GRCh37
NC_000012.10:g.9159804G>A NCBI36
NG_011717.1:g.5022C>T
NG_011717.2:g.5022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-92C>T (A2M) ENSP00000323929.7:n.-92C>T
ENST00000404455.2:c.-17-75C>T (A2M) ENSP00000385710.2:n.-17-75C>T
ENST00000467091.1:n.121C>T (A2M)
ENST00000497324.1:n.77C>T (A2M)
NM_000014.4:c.-92C>T (A2M) NP_000005.2:n.-92C>T
NM_000014.5:c.-92C>T (A2M) NP_000005.2:n.-92C>T
NM_001347423.1:c.-17-75C>T (A2M) NP_001334352.1:n.-17-75C>T
NM_001347424.1:c.-545C>T (A2M) NP_001334353.1:n.-545C>T
NM_001347425.1:c.-382C>T (A2M) NP_001334354.1:n.-382C>T
XM_006719056.3:c.-92C>T (A2M) XP_006719119.1:n.-92C>T
XM_017018683.1:c.*34-9433G>A (KLRG1) XP_016874172.1:n.*34-9433G>A
XM_017018684.1:c.*34-19145G>A (KLRG1) XP_016874173.1:n.*34-19145G>A
XM_017018685.1:c.*33+57775G>A (KLRG1) XP_016874174.1:n.*33+57775G>A
NM_001347423.2:c.-17-75C>T (A2M) NP_001334352.2:n.-17-75C>T