Canonical Allele Identifier: CA1069712369
Gene: DCHS2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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