Canonical Allele Identifier: CA8836893

Gene: FSCN2

Linked Data

• ClinVar Variation Id: 377132
• ClinVar RCV Id: RCV000423345 ; RCV000764149 ; RCV004022273
• dbSNP Id: rs181420326
• ExAC: 17:79502080 G / A
• gnomAD v2: 17-79502080-G-A
• gnomAD v3: 17-81535054-G-A
• gnomAD v4: 17-81535054-G-A
• MyVariant Identifiers: chr17:g.79502080G>A (hg19) ; chr17:g.81535054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.81535054G>A , CM000679.2:g.81535054G>A	GRCh38
NC_000017.10:g.79502080G>A , CM000679.1:g.79502080G>A	GRCh37
NG_015964.1:g.11664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417245.7:c.829G>A MANE Select	ENSP00000388716.2:p.Val277Ile
ENST00000334850.7:c.829G>A	ENSP00000334665.7:p.Val277Ile
ENST00000417245.6:c.829G>A	ENSP00000388716.2:p.Val277Ile
NM_001077182.2:c.829G>A	NP_001070650.1:p.Val277Ile
NM_012418.3:c.829G>A	NP_036550.1:p.Val277Ile
XM_005257195.3:c.829G>A	XP_005257252.1:p.Val277Ile
XM_011524587.1:c.829G>A	XP_011522889.1:p.Val277Ile
XM_011524588.1:c.829G>A	XP_011522890.1:p.Val277Ile
XM_011524589.1:c.829G>A	XP_011522891.1:p.Val277Ile
XM_011524590.1:c.829G>A	XP_011522892.1:p.Val277Ile
XM_011524591.1:c.829G>A	XP_011522893.1:p.Val277Ile
XM_011524592.1:c.829G>A	XP_011522894.1:p.Val277Ile
XM_011524593.1:c.829G>A	XP_011522895.1:p.Val277Ile
XM_011524594.1:c.166G>A	XP_011522896.1:p.Val56Ile
XM_011524587.2:c.829G>A	XP_011522889.1:p.Val277Ile
XM_011524590.2:c.829G>A	XP_011522892.1:p.Val277Ile
NM_001077182.3:c.829G>A	NP_001070650.1:p.Val277Ile
NM_012418.4:c.829G>A MANE Select	NP_036550.1:p.Val277Ile