Canonical Allele Identifier: CA270593511
Gene: DMXL2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.51474282A>G , CM000677.2:g.51474282A>G GRCh38
NC_000015.9:g.51766479A>G , CM000677.1:g.51766479A>G GRCh37
NC_000015.8:g.49553771A>G NCBI36
NG_017155.1:g.153489T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560891.6:c.7213+62T>C MANE Select ENSP00000453267.2:n.7213+62T>C
ENST00000251076.9:c.7210+62T>C ENSP00000251076.5:n.7210+62T>C
ENST00000449909.7:c.5302+62T>C ENSP00000400855.3:n.5302+62T>C
ENST00000543779.6:c.7213+62T>C ENSP00000441858.2:n.7213+62T>C
ENST00000560891.5:c.1587+62T>C
NM_001174116.1:c.7213+62T>C NP_001167587.1:n.7213+62T>C
NM_001174117.1:c.5302+62T>C NP_001167588.1:n.5302+62T>C
NM_015263.3:c.7210+62T>C NP_056078.2:n.7210+62T>C
XM_005254255.1:c.7213+62T>C XP_005254312.1:n.7213+62T>C
XM_005254256.1:c.7210+62T>C XP_005254313.1:n.7210+62T>C
XR_243084.1:n.7501+62T>C
XR_243085.1:n.7501+62T>C
XR_931779.1:n.7501+62T>C
XR_931780.1:n.7501+62T>C
XR_931781.1:n.7501+62T>C
XM_017022034.1:c.7159+62T>C XP_016877523.1:n.7159+62T>C
XR_001751173.1:n.7501+62T>C
XR_001751174.1:n.7501+62T>C
XR_001751175.1:n.7501+62T>C
XR_001751176.1:n.7501+62T>C
XR_001751177.1:n.7501+62T>C
XR_931779.2:n.7501+62T>C
XR_931780.2:n.7501+62T>C
XR_931781.2:n.7501+62T>C
NM_001174116.2:c.7213+62T>C NP_001167587.1:n.7213+62T>C
NM_001174117.2:c.5302+62T>C NP_001167588.1:n.5302+62T>C
NM_015263.4:c.7210+62T>C NP_056078.2:n.7210+62T>C
NM_001174116.3:c.7213+62T>C NP_001167587.1:n.7213+62T>C
NM_001174117.3:c.5302+62T>C NP_001167588.1:n.5302+62T>C
NM_001378457.1:c.7213+62T>C MANE Select NP_001365386.1:n.7213+62T>C
NM_001378458.1:c.7210+62T>C NP_001365387.1:n.7210+62T>C
NM_001378459.1:c.7213+62T>C NP_001365388.1:n.7213+62T>C
NM_001378460.1:c.5191+62T>C NP_001365389.1:n.5191+62T>C
NM_001378461.1:c.7213+62T>C NP_001365390.1:n.7213+62T>C
NM_001378462.1:c.7210+62T>C NP_001365391.1:n.7210+62T>C
NM_001378463.1:c.7213+62T>C NP_001365392.1:n.7213+62T>C
NM_001378464.1:c.6970+62T>C NP_001365393.1:n.6970+62T>C
NM_015263.5:c.7210+62T>C NP_056078.2:n.7210+62T>C
NR_165648.1:n.7436+62T>C
NR_165649.1:n.7439+62T>C