Canonical Allele Identifier: CA2792670047

Gene: FCHSD2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.72959765A>G , CM000673.2:g.72959765A>G	GRCh38
NC_000011.9:g.72670810A>G , CM000673.1:g.72670810A>G	GRCh37
NC_000011.8:g.72348458A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409418.9:c.705+24323T>C MANE Select	ENSP00000386722.4:n.705+24323T>C
ENST00000311172.11:c.537+24323T>C	ENSP00000308978.7:n.537+24323T>C
ENST00000409314.5:c.705+24323T>C	ENSP00000386987.1:n.705+24323T>C
ENST00000409418.8:c.705+24323T>C	ENSP00000386722.4:n.705+24323T>C
ENST00000409853.5:c.537+24323T>C	ENSP00000386314.1:n.537+24323T>C
ENST00000458644.6:c.225+24323T>C	ENSP00000402972.2:n.225+24323T>C
NM_014824.2:c.705+24323T>C	NP_055639.2:n.705+24323T>C
XM_011545409.1:c.642+24323T>C	XP_011543711.1:n.642+24323T>C
XM_011545410.1:c.630+24323T>C	XP_011543712.1:n.630+24323T>C
XM_011545411.1:c.471+24323T>C	XP_011543713.1:n.471+24323T>C
XM_011545412.1:c.705+24323T>C	XP_011543714.1:n.705+24323T>C
XM_011545410.2:c.630+24323T>C	XP_011543712.1:n.630+24323T>C
XM_017018632.1:c.642+24323T>C	XP_016874121.1:n.642+24323T>C
XR_001748055.1:n.1510+24323T>C
NM_014824.3:c.705+24323T>C MANE Select	NP_055639.2:n.705+24323T>C