Canonical Allele Identifier: CA383839242

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9079670G>C , CM000674.2:g.9079670G>C GRCh38
NC_000012.11:g.9232266G>C , CM000674.1:g.9232266G>C GRCh37
NC_000012.10:g.9123533G>C NCBI36
NG_011717.1:g.41293C>G
NG_011717.2:g.41293C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.3000C>G (A2M) MANE Select ENSP00000323929.8:p.Ile1000Met
ENST00000318602.11:c.3000C>G (A2M) ENSP00000323929.7:p.Ile1000Met
ENST00000542567.1:n.355C>G (A2M)
ENST00000543436.2:n.451+10242C>G (A2M)
ENST00000545828.1:n.349-6949C>G (A2M)
NM_000014.4:c.3000C>G (A2M) NP_000005.2:p.Ile1000Met
XM_006719056.2:c.3000C>G (A2M) XP_006719119.1:p.Ile1000Met
NM_000014.5:c.3000C>G (A2M) NP_000005.2:p.Ile1000Met
NM_001347423.1:c.3000C>G (A2M) NP_001334352.1:p.Ile1000Met
NM_001347424.1:c.2700C>G (A2M) NP_001334353.1:p.Ile900Met
NM_001347425.1:c.2550C>G (A2M) NP_001334354.1:p.Ile850Met
XM_006719056.3:c.3000C>G (A2M) XP_006719119.1:p.Ile1000Met
XM_017018683.1:c.*33+21504G>C (KLRG1) XP_016874172.1:n.*33+21504G>C
XM_017018684.1:c.*33+21504G>C (KLRG1) XP_016874173.1:n.*33+21504G>C
XM_017018685.1:c.*33+21504G>C (KLRG1) XP_016874174.1:n.*33+21504G>C
NM_000014.6:c.3000C>G (A2M) MANE Select NP_000005.3:p.Ile1000Met
NM_001347423.2:c.3000C>G (A2M) NP_001334352.2:p.Ile1000Met
NM_001347424.2:c.2700C>G (A2M) NP_001334353.2:p.Ile900Met
NM_001347425.2:c.2550C>G (A2M) NP_001334354.2:p.Ile850Met