Canonical Allele Identifier: CA2015339309
Community Standard Title: NM_000014.6(A2M):c.2111G= (p.Arg704=)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.9094987C= , CM000674.2:g.9094987C= GRCh38
NC_000012.11:g.9247583C= , CM000674.1:g.9247583C= GRCh37
NC_000012.10:g.9138850C= NCBI36
NG_011717.1:g.25976G=
NG_011717.2:g.25976G=

Transcript Alleles

HGVS Amino-acid Change
NM_000014.6:c.2111G= (A2M) MANE Select NP_000005.3:p.Arg704=
ENST00000318602.12:c.2111G= (A2M) MANE Select ENSP00000323929.8:p.Arg704=
NM_000014.4:c.2111G= (A2M) NP_000005.2:p.Arg704=
NM_000014.5:c.2111G= (A2M) NP_000005.2:p.Arg704=
NM_001347423.1:c.2111G= (A2M) NP_001334352.1:p.Arg704=
NM_001347423.2:c.2111G= (A2M) NP_001334352.2:p.Arg704=
NM_001347424.1:c.1811G= (A2M) NP_001334353.1:p.Arg604=
NM_001347424.2:c.1811G= (A2M) NP_001334353.2:p.Arg604=
NM_001347425.1:c.1661G= (A2M) NP_001334354.1:p.Arg554=
NM_001347425.2:c.1661G= (A2M) NP_001334354.2:p.Arg554=
ENST00000318602.11:c.2111G= (A2M) ENSP00000323929.7:p.Arg704=
ENST00000545828.1:n.348+6563G= (A2M)
ENST00000546069.1:c.430G= (A2M) ENSP00000438599.1:n.430G=
XM_006719056.2:c.2111G= (A2M) XP_006719119.1:p.Arg704=
XM_006719056.3:c.2111G= (A2M) XP_006719119.1:p.Arg704=
XM_017018683.1:c.*34-30387C= (KLRG1) XP_016874172.1:n.*34-30387C=
XM_017018684.1:c.*33+36821C= (KLRG1) XP_016874173.1:n.*33+36821C=
XM_017018685.1:c.*33+36821C= (KLRG1) XP_016874174.1:n.*33+36821C=