Canonical Allele Identifier: CA7562232

Gene: DMXL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51502917T>C , CM000677.2:g.51502917T>C	GRCh38
NC_000015.9:g.51795114T>C , CM000677.1:g.51795114T>C	GRCh37
NC_000015.8:g.49582406T>C	NCBI36
NG_017155.1:g.124854A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560891.6:c.2881A>G MANE Select	ENSP00000453267.2:p.Ile961Val
ENST00000251076.9:c.2881A>G	ENSP00000251076.5:p.Ile961Val
ENST00000449909.7:c.2764+4217A>G	ENSP00000400855.3:n.2764+4217A>G
ENST00000543779.6:c.2881A>G	ENSP00000441858.2:p.Ile961Val
NM_001174116.1:c.2881A>G	NP_001167587.1:p.Ile961Val
NM_001174117.1:c.2764+4217A>G	NP_001167588.1:n.2764+4217A>G
NM_015263.3:c.2881A>G	NP_056078.2:p.Ile961Val
XM_005254255.1:c.2881A>G	XP_005254312.1:p.Ile961Val
XM_005254256.1:c.2881A>G	XP_005254313.1:p.Ile961Val
XM_011521402.1:c.2881A>G	XP_011519704.1:p.Ile961Val
XR_243084.1:n.3169A>G
XR_243085.1:n.3169A>G
XR_931779.1:n.3169A>G
XR_931780.1:n.3169A>G
XR_931781.1:n.3169A>G
XR_931782.1:n.3169A>G
XM_011521402.3:c.2881A>G	XP_011519704.1:p.Ile961Val
XM_017022034.1:c.2827A>G	XP_016877523.1:p.Ile943Val
XR_001751173.1:n.3169A>G
XR_001751174.1:n.3169A>G
XR_001751175.1:n.3169A>G
XR_001751176.1:n.3169A>G
XR_001751177.1:n.3169A>G
XR_931779.2:n.3169A>G
XR_931780.2:n.3169A>G
XR_931781.2:n.3169A>G
XR_931782.2:n.3169A>G
NM_001174116.2:c.2881A>G	NP_001167587.1:p.Ile961Val
NM_001174117.2:c.2764+4217A>G	NP_001167588.1:n.2764+4217A>G
NM_015263.4:c.2881A>G	NP_056078.2:p.Ile961Val
NM_001174116.3:c.2881A>G	NP_001167587.1:p.Ile961Val
NM_001174117.3:c.2764+4217A>G	NP_001167588.1:n.2764+4217A>G
NM_001378457.1:c.2881A>G MANE Select	NP_001365386.1:p.Ile961Val
NM_001378458.1:c.2881A>G	NP_001365387.1:p.Ile961Val
NM_001378459.1:c.2881A>G	NP_001365388.1:p.Ile961Val
NM_001378460.1:c.2764+4217A>G	NP_001365389.1:n.2764+4217A>G
NM_001378461.1:c.2881A>G	NP_001365390.1:p.Ile961Val
NM_001378462.1:c.2881A>G	NP_001365391.1:p.Ile961Val
NM_001378463.1:c.2881A>G	NP_001365392.1:p.Ile961Val
NM_001378464.1:c.2641A>G	NP_001365393.1:p.Ile881Val
NM_015263.5:c.2881A>G	NP_056078.2:p.Ile961Val
NR_165648.1:n.3107A>G
NR_165649.1:n.3107A>G