Canonical Allele Identifier: CA2015346901

Linked Data

dbSNP Id: rs1939066439
gnomAD v4: 12-9115701-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115701G>T , CM000674.2:g.9115701G>T GRCh38
NC_000012.11:g.9268297G>T , CM000674.1:g.9268297G>T GRCh37
NC_000012.10:g.9159564G>T NCBI36
NG_011717.1:g.5262C>A
NG_011717.2:g.5262C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.86+63C>A (A2M) MANE Select ENSP00000323929.8:n.86+63C>A
ENST00000318602.11:c.86+63C>A (A2M) ENSP00000323929.7:n.86+63C>A
ENST00000404455.2:c.86+63C>A (A2M) ENSP00000385710.2:n.86+63C>A
ENST00000467091.1:n.298+63C>A (A2M)
ENST00000497324.1:n.254+63C>A (A2M)
ENST00000539638.5:c.86+63C>A (A2M) ENSP00000445717.1:n.86+63C>A
NM_000014.4:c.86+63C>A (A2M) NP_000005.2:n.86+63C>A
XM_006719056.2:c.86+63C>A (A2M) XP_006719119.1:n.86+63C>A
NM_000014.5:c.86+63C>A (A2M) NP_000005.2:n.86+63C>A
NM_001347423.1:c.86+63C>A (A2M) NP_001334352.1:n.86+63C>A
NM_001347424.1:c.-368+63C>A (A2M) NP_001334353.1:n.-368+63C>A
NM_001347425.1:c.-205+63C>A (A2M) NP_001334354.1:n.-205+63C>A
XM_006719056.3:c.86+63C>A (A2M) XP_006719119.1:n.86+63C>A
XM_017018683.1:c.*34-9673G>T (KLRG1) XP_016874172.1:n.*34-9673G>T
XM_017018684.1:c.*34-19385G>T (KLRG1) XP_016874173.1:n.*34-19385G>T
XM_017018685.1:c.*33+57535G>T (KLRG1) XP_016874174.1:n.*33+57535G>T
NM_000014.6:c.86+63C>A (A2M) MANE Select NP_000005.3:n.86+63C>A
NM_001347423.2:c.86+63C>A (A2M) NP_001334352.2:n.86+63C>A
NM_001347424.2:c.-368+63C>A (A2M) NP_001334353.2:n.-368+63C>A
NM_001347425.2:c.-205+63C>A (A2M) NP_001334354.2:n.-205+63C>A