Canonical Allele Identifier: CA385583386

Gene: DPY19L2

Linked Data

• MyVariant Identifiers: chr12:g.64017820C>G (hg19) ; chr12:g.63624040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.63624040C>G , CM000674.2:g.63624040C>G	GRCh38
NC_000012.11:g.64017820C>G , CM000674.1:g.64017820C>G	GRCh37
NC_000012.10:g.62304087C>G	NCBI36
NG_031909.1:g.49535G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324472.9:c.953G>C MANE Select	ENSP00000315988.4:p.Arg318Thr
ENST00000306389.7:c.*344+2429G>C	ENSP00000445878.1:n.*344+2429G>C
ENST00000324472.8:c.953G>C	ENSP00000315988.4:p.Arg318Thr
NM_173812.4:c.953G>C	NP_776173.3:p.Arg318Thr
XM_006719348.2:c.953G>C	XP_006719411.1:p.Arg318Thr
XM_006719350.2:c.953G>C	XP_006719413.1:p.Arg318Thr
XM_006719352.1:c.524G>C	XP_006719415.1:p.Arg175Thr
XM_006719353.2:c.524G>C	XP_006719416.1:p.Arg175Thr
XM_006719355.2:c.953G>C	XP_006719418.1:p.Arg318Thr
XM_006719356.2:c.8+2429G>C	XP_006719419.1:n.8+2429G>C
XM_011538215.1:c.440G>C	XP_011536517.1:p.Arg147Thr
XM_011538216.1:c.953G>C	XP_011536518.1:p.Arg318Thr
XM_011538217.1:c.953G>C	XP_011536519.1:p.Arg318Thr
XR_429092.2:n.1169G>C
XR_944521.1:n.1169G>C
XM_006719352.2:c.524G>C	XP_006719415.1:p.Arg175Thr
XM_011538215.2:c.440G>C	XP_011536517.1:p.Arg147Thr
XM_017019192.2:c.804-2703G>C	XP_016874681.1:n.804-2703G>C
XM_017019193.2:c.650G>C	XP_016874682.1:p.Arg217Thr
XM_017019201.1:c.8+2429G>C	XP_016874690.1:n.8+2429G>C
XM_017019203.2:c.8+2429G>C	XP_016874692.1:n.8+2429G>C
XM_017019204.1:c.8+2429G>C	XP_016874693.1:n.8+2429G>C
XM_024448944.1:c.953G>C	XP_024304712.1:p.Arg318Thr
XM_024448945.1:c.953G>C	XP_024304713.1:p.Arg318Thr
XM_024448946.1:c.524G>C	XP_024304714.1:p.Arg175Thr
XM_024448947.1:c.524G>C	XP_024304715.1:p.Arg175Thr
XM_024448948.1:c.953G>C	XP_024304716.1:p.Arg318Thr
XM_024448949.1:c.953G>C	XP_024304717.1:p.Arg318Thr
XM_024448950.1:c.953G>C	XP_024304718.1:p.Arg318Thr
XM_024448951.1:c.953G>C	XP_024304719.1:p.Arg318Thr
XM_024448952.1:c.953G>C	XP_024304720.1:p.Arg318Thr
XM_024448953.1:c.953G>C	XP_024304721.1:p.Arg318Thr
XM_024448954.1:c.953G>C	XP_024304722.1:p.Arg318Thr
XM_024448955.1:c.953G>C	XP_024304723.1:p.Arg318Thr
XM_024448956.1:c.524G>C	XP_024304724.1:p.Arg175Thr
XM_024448957.1:c.953G>C	XP_024304725.1:p.Arg318Thr
XR_001748666.2:n.1105G>C
XR_002957314.1:n.1105G>C
XR_002957315.1:n.1105G>C
XR_002957316.1:n.1105G>C
XR_002957317.1:n.1105G>C
XR_002957318.1:n.1105G>C
XR_002957319.1:n.1105G>C
NM_173812.5:c.953G>C MANE Select	NP_776173.3:p.Arg318Thr