Canonical Allele Identifier: CA1581271225

Gene: FBN2

Linked Data

• dbSNP Id: rs1750922541

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128339068C>T , CM000667.2:g.128339068C>T	GRCh38
NC_000005.9:g.127674760C>T , CM000667.1:g.127674760C>T	GRCh37
NC_000005.8:g.127702659C>T	NCBI36
NG_008750.1:g.203976G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.121G>A
ENST00000703785.1:n.202G>A
ENST00000262464.9:c.3344-7G>A MANE Select	ENSP00000262464.4:n.3344-7G>A
ENST00000262464.8:c.3344-7G>A	ENSP00000262464.4:n.3344-7G>A
ENST00000507835.5:c.-114G>A	ENSP00000426839.1:n.-114G>A
ENST00000508053.5:c.3344-7G>A	ENSP00000424571.1:n.3344-7G>A
ENST00000508989.5:c.3245-7G>A	ENSP00000425596.1:n.3245-7G>A
ENST00000619499.4:c.3341-7G>A	ENSP00000482132.1:n.3341-7G>A
NM_001999.3:c.3344-7G>A	NP_001990.2:n.3344-7G>A
XM_017009228.2:c.3191-7G>A	XP_016864717.1:n.3191-7G>A
NM_001999.4:c.3344-7G>A MANE Select	NP_001990.2:n.3344-7G>A