Canonical Allele Identifier: CA383855156

Linked Data

dbSNP Id: rs1262945299
gnomAD v2: 12-9268420-G-A
gnomAD v4: 12-9115824-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115824G>A , CM000674.2:g.9115824G>A GRCh38
NC_000012.11:g.9268420G>A , CM000674.1:g.9268420G>A GRCh37
NC_000012.10:g.9159687G>A NCBI36
NG_011717.1:g.5139C>T
NG_011717.2:g.5139C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.26C>T (A2M) MANE Select ENSP00000323929.8:p.Pro9Leu
ENST00000318602.11:c.26C>T (A2M) ENSP00000323929.7:p.Pro9Leu
ENST00000404455.2:c.26C>T (A2M) ENSP00000385710.2:p.Pro9Leu
ENST00000467091.1:n.238C>T (A2M)
ENST00000497324.1:n.194C>T (A2M)
ENST00000539638.5:c.26C>T (A2M) ENSP00000445717.1:p.Pro9Leu
NM_000014.4:c.26C>T (A2M) NP_000005.2:p.Pro9Leu
XM_006719056.2:c.26C>T (A2M) XP_006719119.1:p.Pro9Leu
NM_000014.5:c.26C>T (A2M) NP_000005.2:p.Pro9Leu
NM_001347423.1:c.26C>T (A2M) NP_001334352.1:p.Pro9Leu
NM_001347424.1:c.-428C>T (A2M) NP_001334353.1:n.-428C>T
NM_001347425.1:c.-265C>T (A2M) NP_001334354.1:n.-265C>T
XM_006719056.3:c.26C>T (A2M) XP_006719119.1:p.Pro9Leu
XM_017018683.1:c.*34-9550G>A (KLRG1) XP_016874172.1:n.*34-9550G>A
XM_017018684.1:c.*34-19262G>A (KLRG1) XP_016874173.1:n.*34-19262G>A
XM_017018685.1:c.*33+57658G>A (KLRG1) XP_016874174.1:n.*33+57658G>A
NM_000014.6:c.26C>T (A2M) MANE Select NP_000005.3:p.Pro9Leu
NM_001347423.2:c.26C>T (A2M) NP_001334352.2:p.Pro9Leu
NM_001347424.2:c.-428C>T (A2M) NP_001334353.2:n.-428C>T
NM_001347425.2:c.-265C>T (A2M) NP_001334354.2:n.-265C>T