Canonical Allele Identifier: CA360753378

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128408722C>A , CM000667.2:g.128408722C>A	GRCh38
NC_000005.9:g.127744415C>A , CM000667.1:g.127744415C>A	GRCh37
NC_000005.8:g.127772314C>A	NCBI36
NG_008750.1:g.134321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508053.6:c.1030G>T	ENSP00000424571.2:p.Val344Phe
ENST00000703787.1:n.737G>T
ENST00000262464.9:c.1030G>T MANE Select	ENSP00000262464.4:p.Val344Phe
ENST00000262464.8:c.1030G>T	ENSP00000262464.4:p.Val344Phe
ENST00000508053.5:c.1030G>T	ENSP00000424571.1:p.Val344Phe
ENST00000508989.5:c.931G>T	ENSP00000425596.1:p.Val311Phe
ENST00000619499.4:c.1027G>T	ENSP00000482132.1:p.Val343Phe
NM_001999.3:c.1030G>T	NP_001990.2:p.Val344Phe
XM_017009228.2:c.1030G>T	XP_016864717.1:p.Val344Phe
NM_001999.4:c.1030G>T MANE Select	NP_001990.2:p.Val344Phe