Canonical Allele Identifier: CA6439099

Linked Data

dbSNP Id: rs769367766
gnomAD v2: 12-9268507-T-A
gnomAD v3: 12-9115911-T-A
gnomAD v4: 12-9115911-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115911T>A , CM000674.2:g.9115911T>A GRCh38
NC_000012.11:g.9268507T>A , CM000674.1:g.9268507T>A GRCh37
NC_000012.10:g.9159774T>A NCBI36
NG_011717.1:g.5052A>T
NG_011717.2:g.5052A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.-62A>T (A2M) MANE Select ENSP00000323929.8:n.-62A>T
ENST00000318602.11:c.-62A>T (A2M) ENSP00000323929.7:n.-62A>T
ENST00000404455.2:c.-17-45A>T (A2M) ENSP00000385710.2:n.-17-45A>T
ENST00000467091.1:n.151A>T (A2M)
ENST00000497324.1:n.107A>T (A2M)
NM_000014.4:c.-62A>T (A2M) NP_000005.2:n.-62A>T
XM_006719056.2:c.-62A>T (A2M) XP_006719119.1:n.-62A>T
NM_000014.5:c.-62A>T (A2M) NP_000005.2:n.-62A>T
NM_001347423.1:c.-17-45A>T (A2M) NP_001334352.1:n.-17-45A>T
NM_001347424.1:c.-515A>T (A2M) NP_001334353.1:n.-515A>T
NM_001347425.1:c.-352A>T (A2M) NP_001334354.1:n.-352A>T
XM_006719056.3:c.-62A>T (A2M) XP_006719119.1:n.-62A>T
XM_017018683.1:c.*34-9463T>A (KLRG1) XP_016874172.1:n.*34-9463T>A
XM_017018684.1:c.*34-19175T>A (KLRG1) XP_016874173.1:n.*34-19175T>A
XM_017018685.1:c.*33+57745T>A (KLRG1) XP_016874174.1:n.*33+57745T>A
NM_000014.6:c.-62A>T (A2M) MANE Select NP_000005.3:n.-62A>T
NM_001347423.2:c.-17-45A>T (A2M) NP_001334352.2:n.-17-45A>T
NM_001347424.2:c.-515A>T (A2M) NP_001334353.2:n.-515A>T
NM_001347425.2:c.-352A>T (A2M) NP_001334354.2:n.-352A>T