Canonical Allele Identifier: CA693260606

Linked Data

dbSNP Id: rs1314306574
gnomAD v3: 12-9079844-A-G
gnomAD v4: 12-9079844-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079844A>G , CM000674.2:g.9079844A>G GRCh38
NC_000012.11:g.9232440A>G , CM000674.1:g.9232440A>G GRCh37
NC_000012.10:g.9123707A>G NCBI36
NG_011717.1:g.41119T>C
NG_011717.2:g.41119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.2855-29T>C (A2M) MANE Select ENSP00000323929.8:n.2855-29T>C
ENST00000318602.11:c.2855-29T>C (A2M) ENSP00000323929.7:n.2855-29T>C
ENST00000542567.1:n.210-29T>C (A2M)
ENST00000543436.2:n.451+10068T>C (A2M)
ENST00000545828.1:n.349-7123T>C (A2M)
NM_000014.4:c.2855-29T>C (A2M) NP_000005.2:n.2855-29T>C
XM_006719056.2:c.2855-29T>C (A2M) XP_006719119.1:n.2855-29T>C
NM_000014.5:c.2855-29T>C (A2M) NP_000005.2:n.2855-29T>C
NM_001347423.1:c.2855-29T>C (A2M) NP_001334352.1:n.2855-29T>C
NM_001347424.1:c.2555-29T>C (A2M) NP_001334353.1:n.2555-29T>C
NM_001347425.1:c.2405-29T>C (A2M) NP_001334354.1:n.2405-29T>C
XM_006719056.3:c.2855-29T>C (A2M) XP_006719119.1:n.2855-29T>C
XM_017018683.1:c.*33+21678A>G (KLRG1) XP_016874172.1:n.*33+21678A>G
XM_017018684.1:c.*33+21678A>G (KLRG1) XP_016874173.1:n.*33+21678A>G
XM_017018685.1:c.*33+21678A>G (KLRG1) XP_016874174.1:n.*33+21678A>G
NM_000014.6:c.2855-29T>C (A2M) MANE Select NP_000005.3:n.2855-29T>C
NM_001347423.2:c.2855-29T>C (A2M) NP_001334352.2:n.2855-29T>C
NM_001347424.2:c.2555-29T>C (A2M) NP_001334353.2:n.2555-29T>C
NM_001347425.2:c.2405-29T>C (A2M) NP_001334354.2:n.2405-29T>C