Canonical Allele Identifier: CA944576202

Linked Data

dbSNP Id: rs1939091262
gnomAD v3: 12-9115960-T-G
gnomAD v4: 12-9115960-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115960T>G , CM000674.2:g.9115960T>G GRCh38
NC_000012.11:g.9268556T>G , CM000674.1:g.9268556T>G GRCh37
NC_000012.10:g.9159823T>G NCBI36
NG_011717.1:g.5003A>C
NG_011717.2:g.5003A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.11:c.-111A>C (A2M) ENSP00000323929.7:n.-111A>C
ENST00000404455.2:c.-17-94A>C (A2M) ENSP00000385710.2:n.-17-94A>C
ENST00000467091.1:n.102A>C (A2M)
ENST00000497324.1:n.58A>C (A2M)
NM_000014.4:c.-111A>C (A2M) NP_000005.2:n.-111A>C
NM_000014.5:c.-111A>C (A2M) NP_000005.2:n.-111A>C
NM_001347423.1:c.-17-94A>C (A2M) NP_001334352.1:n.-17-94A>C
NM_001347424.1:c.-564A>C (A2M) NP_001334353.1:n.-564A>C
NM_001347425.1:c.-401A>C (A2M) NP_001334354.1:n.-401A>C
XM_017018683.1:c.*34-9414T>G (KLRG1) XP_016874172.1:n.*34-9414T>G
XM_017018684.1:c.*34-19126T>G (KLRG1) XP_016874173.1:n.*34-19126T>G
XM_017018685.1:c.*33+57794T>G (KLRG1) XP_016874174.1:n.*33+57794T>G
NM_001347423.2:c.-17-94A>C (A2M) NP_001334352.2:n.-17-94A>C