Canonical Allele Identifier: CA2842016434

Gene: CTDSPL2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44481976T>C , CM000677.2:g.44481976T>C	GRCh38
NC_000015.9:g.44774174T>C , CM000677.1:g.44774174T>C	GRCh37
NC_000015.8:g.42561466T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260327.9:c.187-2248T>C MANE Select	ENSP00000260327.4:n.187-2248T>C
ENST00000260327.8:c.187-2248T>C	ENSP00000260327.4:n.187-2248T>C
ENST00000558373.5:c.187-2248T>C	ENSP00000453051.1:n.187-2248T>C
ENST00000558791.5:c.187-2248T>C	ENSP00000453612.1:n.187-2248T>C
ENST00000558966.5:c.187-2248T>C	ENSP00000452837.1:n.187-2248T>C
ENST00000558968.1:c.187-2248T>C	ENSP00000454154.1:n.187-2248T>C
ENST00000559793.5:c.187-2248T>C	ENSP00000454187.1:n.187-2248T>C
ENST00000560834.1:n.448-2248T>C
NM_016396.2:c.187-2248T>C	NP_057480.2:n.187-2248T>C
XM_005254441.1:c.187-2248T>C	XP_005254498.1:n.187-2248T>C
XM_006720565.1:c.187-2248T>C	XP_006720628.1:n.187-2248T>C
XM_006720566.2:c.187-2248T>C	XP_006720629.1:n.187-2248T>C
XM_011521665.1:c.187-2248T>C	XP_011519967.1:n.187-2248T>C
XM_011521666.1:c.187-2248T>C	XP_011519968.1:n.187-2248T>C
XR_429454.2:n.385-2248T>C
XR_429455.2:n.385-2248T>C
XM_005254441.2:c.187-2248T>C	XP_005254498.1:n.187-2248T>C
XM_006720565.2:c.187-2248T>C	XP_006720628.1:n.187-2248T>C
XM_011521665.2:c.187-2248T>C	XP_011519967.1:n.187-2248T>C
XM_017022306.2:c.187-2248T>C	XP_016877795.1:n.187-2248T>C
XM_017022307.1:c.187-2248T>C	XP_016877796.1:n.187-2248T>C
XR_001751306.1:n.385-2248T>C
XR_001751307.1:n.385-2248T>C
XR_001751308.1:n.298-2248T>C
XR_001751309.1:n.385-2248T>C
XR_001751310.1:n.385-2248T>C
XR_001751311.1:n.298-2248T>C
XR_001751312.1:n.298-2248T>C
NM_016396.3:c.187-2248T>C MANE Select	NP_057480.2:n.187-2248T>C