Canonical Allele Identifier: CA478342990

Linked Data

MyVariant Identifiers: chr12:g.9268404G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9115808G>T , CM000674.2:g.9115808G>T GRCh38
NC_000012.11:g.9268404G>T , CM000674.1:g.9268404G>T GRCh37
NC_000012.10:g.9159671G>T NCBI36
NG_011717.1:g.5155C>A
NG_011717.2:g.5155C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318602.12:c.42C>A (A2M) MANE Select ENSP00000323929.8:p.Leu14=
ENST00000318602.11:c.42C>A (A2M) ENSP00000323929.7:p.Leu14=
ENST00000404455.2:c.42C>A (A2M) ENSP00000385710.2:p.Leu14=
ENST00000467091.1:n.254C>A (A2M)
ENST00000497324.1:n.210C>A (A2M)
ENST00000539638.5:c.42C>A (A2M) ENSP00000445717.1:p.Leu14=
NM_000014.4:c.42C>A (A2M) NP_000005.2:p.Leu14=
XM_006719056.2:c.42C>A (A2M) XP_006719119.1:p.Leu14=
NM_000014.5:c.42C>A (A2M) NP_000005.2:p.Leu14=
NM_001347423.1:c.42C>A (A2M) NP_001334352.1:p.Leu14=
NM_001347424.1:c.-412C>A (A2M) NP_001334353.1:n.-412C>A
NM_001347425.1:c.-249C>A (A2M) NP_001334354.1:n.-249C>A
XM_006719056.3:c.42C>A (A2M) XP_006719119.1:p.Leu14=
XM_017018683.1:c.*34-9566G>T (KLRG1) XP_016874172.1:n.*34-9566G>T
XM_017018684.1:c.*34-19278G>T (KLRG1) XP_016874173.1:n.*34-19278G>T
XM_017018685.1:c.*33+57642G>T (KLRG1) XP_016874174.1:n.*33+57642G>T
NM_000014.6:c.42C>A (A2M) MANE Select NP_000005.3:p.Leu14=
NM_001347423.2:c.42C>A (A2M) NP_001334352.2:p.Leu14=
NM_001347424.2:c.-412C>A (A2M) NP_001334353.2:n.-412C>A
NM_001347425.2:c.-249C>A (A2M) NP_001334354.2:n.-249C>A