Canonical Allele Identifier: CA603491128

Linked Data

dbSNP Id: rs1413038565
gnomAD v2: 12-9232186-T-G
gnomAD v3: 12-9079590-T-G
gnomAD v4: 12-9079590-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079590T>G , CM000674.2:g.9079590T>G GRCh38
NC_000012.11:g.9232186T>G , CM000674.1:g.9232186T>G GRCh37
NC_000012.10:g.9123453T>G NCBI36
NG_011717.1:g.41373A>C
NG_011717.2:g.41373A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318602.12:c.3031+49A>C (A2M) MANE Select ENSP00000323929.8:n.3031+49A>C
ENST00000318602.11:c.3031+49A>C (A2M) ENSP00000323929.7:n.3031+49A>C
ENST00000542567.1:n.386+49A>C (A2M)
ENST00000543436.2:n.451+10322A>C (A2M)
ENST00000545828.1:n.349-6869A>C (A2M)
NM_000014.4:c.3031+49A>C (A2M) NP_000005.2:n.3031+49A>C
XM_006719056.2:c.3031+49A>C (A2M) XP_006719119.1:n.3031+49A>C
NM_000014.5:c.3031+49A>C (A2M) NP_000005.2:n.3031+49A>C
NM_001347423.1:c.3031+49A>C (A2M) NP_001334352.1:n.3031+49A>C
NM_001347424.1:c.2731+49A>C (A2M) NP_001334353.1:n.2731+49A>C
NM_001347425.1:c.2581+49A>C (A2M) NP_001334354.1:n.2581+49A>C
XM_006719056.3:c.3031+49A>C (A2M) XP_006719119.1:n.3031+49A>C
XM_017018683.1:c.*33+21424T>G (KLRG1) XP_016874172.1:n.*33+21424T>G
XM_017018684.1:c.*33+21424T>G (KLRG1) XP_016874173.1:n.*33+21424T>G
XM_017018685.1:c.*33+21424T>G (KLRG1) XP_016874174.1:n.*33+21424T>G
NM_000014.6:c.3031+49A>C (A2M) MANE Select NP_000005.3:n.3031+49A>C
NM_001347423.2:c.3031+49A>C (A2M) NP_001334352.2:n.3031+49A>C
NM_001347424.2:c.2731+49A>C (A2M) NP_001334353.2:n.2731+49A>C
NM_001347425.2:c.2581+49A>C (A2M) NP_001334354.2:n.2581+49A>C