Canonical Allele Identifier: CA10486250

Gene: MID2

Linked Data

• ClinVar Variation Id: 435871
• ClinVar RCV Id: RCV000502590 ; RCV003892134
• dbSNP Id: rs370198556
• ExAC: X:107170239 G / A
• gnomAD v2: X-107170239-G-A
• gnomAD v3: X-107927009-G-A
• gnomAD v4: X-107927009-G-A
• COSMIC: COSM4702176 ; COSM4702177
• MyVariant Identifiers: chrX:g.107170239G>A (hg19) ; chrX:g.107927009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.107927009G>A , CM000685.2:g.107927009G>A	GRCh38
NC_000023.10:g.107170239G>A , CM000685.1:g.107170239G>A	GRCh37
NC_000023.9:g.107056895G>A	NCBI36
NG_011907.1:g.106156G>A
NG_011907.2:g.106156G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262843.11:c.2144G>A MANE Select	ENSP00000262843.6:p.Arg715Gln
ENST00000262843.10:c.2144G>A	ENSP00000262843.6:p.Arg715Gln
ENST00000443968.2:c.2054G>A	ENSP00000413976.2:p.Arg685Gln
NM_012216.3:c.2144G>A	NP_036348.2:p.Arg715Gln
NM_052817.2:c.2054G>A	NP_438112.2:p.Arg685Gln
NR_110395.1:n.326+6021C>T
XM_005262062.3:c.2084G>A	XP_005262119.1:p.Arg695Gln
XM_005262062.5:c.2084G>A	XP_005262119.1:p.Arg695Gln
XM_017029239.2:c.1994G>A	XP_016884728.1:p.Arg665Gln
NM_012216.4:c.2144G>A MANE Select	NP_036348.2:p.Arg715Gln
NM_052817.3:c.2054G>A	NP_438112.2:p.Arg685Gln
NM_001382751.1:c.2084G>A	NP_001369680.1:p.Arg695Gln
NM_001382752.1:c.1994G>A	NP_001369681.1:p.Arg665Gln