Canonical Allele Identifier: CA360739904

Gene: FBN2

Linked Data

• dbSNP Id: rs1749827671
• MyVariant Identifiers: chr5:g.127640693C>A (hg19) ; chr5:g.128305001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128305001C>A , CM000667.2:g.128305001C>A	GRCh38
NC_000005.9:g.127640693C>A , CM000667.1:g.127640693C>A	GRCh37
NC_000005.8:g.127668592C>A	NCBI36
NG_008750.1:g.238043G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2540G>T
ENST00000703785.1:n.2459G>T
ENST00000262464.9:c.5756G>T MANE Select	ENSP00000262464.4:p.Cys1919Phe
ENST00000262464.8:c.5756G>T	ENSP00000262464.4:p.Cys1919Phe
ENST00000508053.5:c.5756G>T	ENSP00000424571.1:p.Cys1919Phe
ENST00000619499.4:c.5753G>T	ENSP00000482132.1:p.Cys1918Phe
NM_001999.3:c.5756G>T	NP_001990.2:p.Cys1919Phe
XM_017009228.2:c.5603G>T	XP_016864717.1:p.Cys1868Phe
NM_001999.4:c.5756G>T MANE Select	NP_001990.2:p.Cys1919Phe