Canonical Allele Identifier: CA360755124

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668675C>A (hg19) ; chr5:g.128332983C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332983C>A , CM000667.2:g.128332983C>A	GRCh38
NC_000005.9:g.127668675C>A , CM000667.1:g.127668675C>A	GRCh37
NC_000005.8:g.127696574C>A	NCBI36
NG_008750.1:g.210061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.935G>T
ENST00000703785.1:n.1016G>T
ENST00000262464.9:c.4151G>T MANE Select	ENSP00000262464.4:p.Cys1384Phe
ENST00000262464.8:c.4151G>T	ENSP00000262464.4:p.Cys1384Phe
ENST00000507835.5:c.701G>T	ENSP00000426839.1:p.Cys234Phe
ENST00000508053.5:c.4151G>T	ENSP00000424571.1:p.Cys1384Phe
ENST00000508989.5:c.4052G>T	ENSP00000425596.1:p.Cys1351Phe
ENST00000619499.4:c.4148G>T	ENSP00000482132.1:p.Cys1383Phe
NM_001999.3:c.4151G>T	NP_001990.2:p.Cys1384Phe
XM_017009228.2:c.3998G>T	XP_016864717.1:p.Cys1333Phe
NM_001999.4:c.4151G>T MANE Select	NP_001990.2:p.Cys1384Phe