Canonical Allele Identifier: CA641373635

Gene: MAGED2

Linked Data

• dbSNP Id: rs1251011073
• gnomAD v2: X-54838557-T-C
• gnomAD v4: X-54812124-T-C
• MyVariant Identifiers: chrX:g.54838557T>C (hg19) ; chrX:g.54812124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.54812124T>C , CM000685.2:g.54812124T>C	GRCh38
NC_000023.10:g.54838557T>C , CM000685.1:g.54838557T>C	GRCh37
NC_000023.9:g.54855282T>C	NCBI36
NG_012844.1:g.9387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375068.6:c.991-33T>C MANE Select	ENSP00000364209.1:n.991-33T>C
ENST00000218439.8:c.991-33T>C	ENSP00000218439.4:n.991-33T>C
ENST00000347546.8:c.937-33T>C	ENSP00000336962.4:n.937-33T>C
ENST00000375053.6:c.991-33T>C	ENSP00000364193.2:n.991-33T>C
ENST00000375058.5:c.991-33T>C	ENSP00000364198.1:n.991-33T>C
ENST00000375060.5:c.736-33T>C	ENSP00000364200.1:n.736-33T>C
ENST00000375068.5:c.991-33T>C	ENSP00000364209.1:n.991-33T>C
ENST00000396224.1:c.991-33T>C	ENSP00000379526.1:n.991-33T>C
ENST00000487482.5:n.123-33T>C
ENST00000627068.2:c.736-33T>C	ENSP00000486563.1:n.736-33T>C
NM_014599.5:c.991-33T>C	NP_055414.2:n.991-33T>C
NM_177433.2:c.991-33T>C	NP_803182.1:n.991-33T>C
NM_201222.2:c.991-33T>C	NP_957516.1:n.991-33T>C
NM_177433.3:c.991-33T>C MANE Select	NP_803182.1:n.991-33T>C
NM_014599.6:c.991-33T>C	NP_055414.2:n.991-33T>C
NM_201222.3:c.991-33T>C	NP_957516.1:n.991-33T>C