Canonical Allele Identifier: CA2768335084

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301005_128301007dup , CM000667.2:g.128301005_128301007dup	GRCh38
NC_000005.9:g.127636697_127636699dup , CM000667.1:g.127636697_127636699dup	GRCh37
NC_000005.8:g.127664596_127664598dup	NCBI36
NG_008750.1:g.242037_242039dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2831-71_2831-69dup
ENST00000703785.1:n.2750-71_2750-69dup
ENST00000262464.9:c.6047-71_6047-69dup MANE Select	ENSP00000262464.4:n.6047-71_6047-69dup
ENST00000262464.8:c.6047-71_6047-69dup	ENSP00000262464.4:n.6047-71_6047-69dup
ENST00000508053.5:c.6047-71_6047-69dup	ENSP00000424571.1:n.6047-71_6047-69dup
ENST00000619499.4:c.6044-71_6044-69dup	ENSP00000482132.1:n.6044-71_6044-69dup
NM_001999.3:c.6047-71_6047-69dup	NP_001990.2:n.6047-71_6047-69dup
XM_017009228.2:c.5894-71_5894-69dup	XP_016864717.1:n.5894-71_5894-69dup
NM_001999.4:c.6047-71_6047-69dup MANE Select	NP_001990.2:n.6047-71_6047-69dup