Canonical Allele Identifier: CA383855143

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115816C>G , CM000674.2:g.9115816C>G GRCh38
NC_000012.11:g.9268412C>G , CM000674.1:g.9268412C>G GRCh37
NC_000012.10:g.9159679C>G NCBI36
NG_011717.1:g.5147G>C
NG_011717.2:g.5147G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.34G>C (A2M) MANE Select ENSP00000323929.8:p.Val12Leu
ENST00000318602.11:c.34G>C (A2M) ENSP00000323929.7:p.Val12Leu
ENST00000404455.2:c.34G>C (A2M) ENSP00000385710.2:p.Val12Leu
ENST00000467091.1:n.246G>C (A2M)
ENST00000497324.1:n.202G>C (A2M)
ENST00000539638.5:c.34G>C (A2M) ENSP00000445717.1:p.Val12Leu
NM_000014.4:c.34G>C (A2M) NP_000005.2:p.Val12Leu
XM_006719056.2:c.34G>C (A2M) XP_006719119.1:p.Val12Leu
NM_000014.5:c.34G>C (A2M) NP_000005.2:p.Val12Leu
NM_001347423.1:c.34G>C (A2M) NP_001334352.1:p.Val12Leu
NM_001347424.1:c.-420G>C (A2M) NP_001334353.1:n.-420G>C
NM_001347425.1:c.-257G>C (A2M) NP_001334354.1:n.-257G>C
XM_006719056.3:c.34G>C (A2M) XP_006719119.1:p.Val12Leu
XM_017018683.1:c.*34-9558C>G (KLRG1) XP_016874172.1:n.*34-9558C>G
XM_017018684.1:c.*34-19270C>G (KLRG1) XP_016874173.1:n.*34-19270C>G
XM_017018685.1:c.*33+57650C>G (KLRG1) XP_016874174.1:n.*33+57650C>G
NM_000014.6:c.34G>C (A2M) MANE Select NP_000005.3:p.Val12Leu
NM_001347423.2:c.34G>C (A2M) NP_001334352.2:p.Val12Leu
NM_001347424.2:c.-420G>C (A2M) NP_001334353.2:n.-420G>C
NM_001347425.2:c.-257G>C (A2M) NP_001334354.2:n.-257G>C