Canonical Allele Identifier: CA944576133

Linked Data

dbSNP Id: rs1939066739
gnomAD v3: 12-9115711-C-G
gnomAD v4: 12-9115711-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115711C>G , CM000674.2:g.9115711C>G GRCh38
NC_000012.11:g.9268307C>G , CM000674.1:g.9268307C>G GRCh37
NC_000012.10:g.9159574C>G NCBI36
NG_011717.1:g.5252G>C
NG_011717.2:g.5252G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.86+53G>C (A2M) MANE Select ENSP00000323929.8:n.86+53G>C
ENST00000318602.11:c.86+53G>C (A2M) ENSP00000323929.7:n.86+53G>C
ENST00000404455.2:c.86+53G>C (A2M) ENSP00000385710.2:n.86+53G>C
ENST00000467091.1:n.298+53G>C (A2M)
ENST00000497324.1:n.254+53G>C (A2M)
ENST00000539638.5:c.86+53G>C (A2M) ENSP00000445717.1:n.86+53G>C
NM_000014.4:c.86+53G>C (A2M) NP_000005.2:n.86+53G>C
XM_006719056.2:c.86+53G>C (A2M) XP_006719119.1:n.86+53G>C
NM_000014.5:c.86+53G>C (A2M) NP_000005.2:n.86+53G>C
NM_001347423.1:c.86+53G>C (A2M) NP_001334352.1:n.86+53G>C
NM_001347424.1:c.-368+53G>C (A2M) NP_001334353.1:n.-368+53G>C
NM_001347425.1:c.-205+53G>C (A2M) NP_001334354.1:n.-205+53G>C
XM_006719056.3:c.86+53G>C (A2M) XP_006719119.1:n.86+53G>C
XM_017018683.1:c.*34-9663C>G (KLRG1) XP_016874172.1:n.*34-9663C>G
XM_017018684.1:c.*34-19375C>G (KLRG1) XP_016874173.1:n.*34-19375C>G
XM_017018685.1:c.*33+57545C>G (KLRG1) XP_016874174.1:n.*33+57545C>G
NM_000014.6:c.86+53G>C (A2M) MANE Select NP_000005.3:n.86+53G>C
NM_001347423.2:c.86+53G>C (A2M) NP_001334352.2:n.86+53G>C
NM_001347424.2:c.-368+53G>C (A2M) NP_001334353.2:n.-368+53G>C
NM_001347425.2:c.-205+53G>C (A2M) NP_001334354.2:n.-205+53G>C