Canonical Allele Identifier: CA2617528275

Linked Data

gnomAD v4: 12-9068605-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9068605C>A , CM000674.2:g.9068605C>A GRCh38
NC_000012.11:g.9221201C>A , CM000674.1:g.9221201C>A GRCh37
NC_000012.10:g.9112468C>A NCBI36
NG_011717.1:g.52358G>T
NG_011717.2:g.52358G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.4366+135G>T (A2M) MANE Select ENSP00000323929.8:n.4366+135G>T
ENST00000318602.11:c.4366+135G>T (A2M) ENSP00000323929.7:n.4366+135G>T
ENST00000495442.1:n.216+135G>T (A2M)
ENST00000495709.1:n.339+135G>T (A2M)
ENST00000543436.2:n.452-793G>T (A2M)
NM_000014.4:c.4366+135G>T (A2M) NP_000005.2:n.4366+135G>T
XM_006719056.2:c.4366+135G>T (A2M) XP_006719119.1:n.4366+135G>T
NM_000014.5:c.4366+135G>T (A2M) NP_000005.2:n.4366+135G>T
NM_001347423.1:c.4366+135G>T (A2M) NP_001334352.1:n.4366+135G>T
NM_001347424.1:c.4066+135G>T (A2M) NP_001334353.1:n.4066+135G>T
NM_001347425.1:c.3916+135G>T (A2M) NP_001334354.1:n.3916+135G>T
XM_006719056.3:c.4366+135G>T (A2M) XP_006719119.1:n.4366+135G>T
XM_017018683.1:c.*33+10439C>A (KLRG1) XP_016874172.1:n.*33+10439C>A
XM_017018684.1:c.*33+10439C>A (KLRG1) XP_016874173.1:n.*33+10439C>A
XM_017018685.1:c.*33+10439C>A (KLRG1) XP_016874174.1:n.*33+10439C>A
NM_000014.6:c.4366+135G>T (A2M) MANE Select NP_000005.3:n.4366+135G>T
NM_001347423.2:c.4366+135G>T (A2M) NP_001334352.2:n.4366+135G>T
NM_001347424.2:c.4066+135G>T (A2M) NP_001334353.2:n.4066+135G>T
NM_001347425.2:c.3916+135G>T (A2M) NP_001334354.2:n.3916+135G>T