Canonical Allele Identifier: CA2693855128

Gene: MAGED2

Linked Data

• gnomAD v4: X-54812080-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812080C>T , CM000685.2:g.54812080C>T	GRCh38
NC_000023.10:g.54838513C>T , CM000685.1:g.54838513C>T	GRCh37
NC_000023.9:g.54855238C>T	NCBI36
NG_012844.1:g.9343C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375068.6:c.991-77C>T MANE Select	ENSP00000364209.1:n.991-77C>T
ENST00000218439.8:c.991-77C>T	ENSP00000218439.4:n.991-77C>T
ENST00000347546.8:c.937-77C>T	ENSP00000336962.4:n.937-77C>T
ENST00000375053.6:c.991-77C>T	ENSP00000364193.2:n.991-77C>T
ENST00000375058.5:c.991-77C>T	ENSP00000364198.1:n.991-77C>T
ENST00000375060.5:c.736-77C>T	ENSP00000364200.1:n.736-77C>T
ENST00000375068.5:c.991-77C>T	ENSP00000364209.1:n.991-77C>T
ENST00000396224.1:c.991-77C>T	ENSP00000379526.1:n.991-77C>T
ENST00000487482.5:n.123-77C>T
ENST00000627068.2:c.736-77C>T	ENSP00000486563.1:n.736-77C>T
NM_014599.5:c.991-77C>T	NP_055414.2:n.991-77C>T
NM_177433.2:c.991-77C>T	NP_803182.1:n.991-77C>T
NM_201222.2:c.991-77C>T	NP_957516.1:n.991-77C>T
NM_177433.3:c.991-77C>T MANE Select	NP_803182.1:n.991-77C>T
NM_014599.6:c.991-77C>T	NP_055414.2:n.991-77C>T
NM_201222.3:c.991-77C>T	NP_957516.1:n.991-77C>T