Canonical Allele Identifier: CA2709957004

Gene: FBN2

Linked Data

• dbSNP Id: rs2126833970

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301072C>T , CM000667.2:g.128301072C>T	GRCh38
NC_000005.9:g.127636764C>T , CM000667.1:g.127636764C>T	GRCh37
NC_000005.8:g.127664663C>T	NCBI36
NG_008750.1:g.241972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-136G>A
ENST00000703785.1:n.2750-136G>A
ENST00000262464.9:c.6047-136G>A MANE Select	ENSP00000262464.4:n.6047-136G>A
ENST00000262464.8:c.6047-136G>A	ENSP00000262464.4:n.6047-136G>A
ENST00000508053.5:c.6047-136G>A	ENSP00000424571.1:n.6047-136G>A
ENST00000619499.4:c.6044-136G>A	ENSP00000482132.1:n.6044-136G>A
NM_001999.3:c.6047-136G>A	NP_001990.2:n.6047-136G>A
XM_017009228.2:c.5894-136G>A	XP_016864717.1:n.5894-136G>A
NM_001999.4:c.6047-136G>A MANE Select	NP_001990.2:n.6047-136G>A