Canonical Allele Identifier: CA360753936

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666300G>A (hg19) ; chr5:g.128330608G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330608G>A , CM000667.2:g.128330608G>A	GRCh38
NC_000005.9:g.127666300G>A , CM000667.1:g.127666300G>A	GRCh37
NC_000005.8:g.127694199G>A	NCBI36
NG_008750.1:g.212436C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1094C>T
ENST00000703785.1:n.1175C>T
ENST00000262464.9:c.4310C>T MANE Select	ENSP00000262464.4:p.Ser1437Phe
ENST00000262464.8:c.4310C>T	ENSP00000262464.4:p.Ser1437Phe
ENST00000507835.5:c.860C>T	ENSP00000426839.1:p.Ser287Phe
ENST00000508053.5:c.4310C>T	ENSP00000424571.1:p.Ser1437Phe
ENST00000508989.5:c.4211C>T	ENSP00000425596.1:p.Ser1404Phe
ENST00000619499.4:c.4307C>T	ENSP00000482132.1:p.Ser1436Phe
NM_001999.3:c.4310C>T	NP_001990.2:p.Ser1437Phe
XM_017009228.2:c.4157C>T	XP_016864717.1:p.Ser1386Phe
NM_001999.4:c.4310C>T MANE Select	NP_001990.2:p.Ser1437Phe