Canonical Allele Identifier: CA108705763

Gene: DCHS2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.154379907C>A , CM000666.2:g.154379907C>A	GRCh38
NC_000004.11:g.155301059C>A , CM000666.1:g.155301059C>A	GRCh37
NC_000004.10:g.155520509C>A	NCBI36
NG_054879.1:g.116872G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357232.10:c.2053-2463G>T MANE Select	ENSP00000349768.5:n.2053-2463G>T
ENST00000623607.4:n.234-2463G>T
ENST00000339452.2:c.2053-2463G>T	ENSP00000345062.1:n.2053-2463G>T
ENST00000357232.8:c.234-2463G>T
ENST00000623607.3:c.235-2463G>T	ENSP00000485514.1:n.235-2463G>T
NM_001142552.1:c.2053-2463G>T	NP_001136024.1:n.2053-2463G>T
NM_017639.3:c.235-2463G>T	NP_060109.2:n.235-2463G>T
XM_011532045.1:c.2053-2463G>T	XP_011530347.1:n.2053-2463G>T
NM_001358235.1:c.2053-2463G>T	NP_001345164.1:n.2053-2463G>T
NM_001142552.2:c.2053-2463G>T	NP_001136024.1:n.2053-2463G>T
NM_001358235.2:c.2053-2463G>T MANE Select	NP_001345164.1:n.2053-2463G>T