Canonical Allele Identifier: CA2693855169

Gene: MAGED2

Linked Data

• gnomAD v4: X-54812144-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812144T>C , CM000685.2:g.54812144T>C	GRCh38
NC_000023.10:g.54838577T>C , CM000685.1:g.54838577T>C	GRCh37
NC_000023.9:g.54855302T>C	NCBI36
NG_012844.1:g.9407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375068.6:c.991-13T>C MANE Select	ENSP00000364209.1:n.991-13T>C
ENST00000218439.8:c.991-13T>C	ENSP00000218439.4:n.991-13T>C
ENST00000347546.8:c.937-13T>C	ENSP00000336962.4:n.937-13T>C
ENST00000375053.6:c.991-13T>C	ENSP00000364193.2:n.991-13T>C
ENST00000375058.5:c.991-13T>C	ENSP00000364198.1:n.991-13T>C
ENST00000375060.5:c.736-13T>C	ENSP00000364200.1:n.736-13T>C
ENST00000375068.5:c.991-13T>C	ENSP00000364209.1:n.991-13T>C
ENST00000396224.1:c.991-13T>C	ENSP00000379526.1:n.991-13T>C
ENST00000487482.5:n.123-13T>C
ENST00000627068.2:c.736-13T>C	ENSP00000486563.1:n.736-13T>C
NM_014599.5:c.991-13T>C	NP_055414.2:n.991-13T>C
NM_177433.2:c.991-13T>C	NP_803182.1:n.991-13T>C
NM_201222.2:c.991-13T>C	NP_957516.1:n.991-13T>C
NM_177433.3:c.991-13T>C MANE Select	NP_803182.1:n.991-13T>C
NM_014599.6:c.991-13T>C	NP_055414.2:n.991-13T>C
NM_201222.3:c.991-13T>C	NP_957516.1:n.991-13T>C