Canonical Allele Identifier: CA1581270823

Gene: FBN2

Linked Data

• dbSNP Id: rs1750898696

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338236_128338237dup , CM000667.2:g.128338236_128338237dup	GRCh38
NC_000005.9:g.127673928_127673929dup , CM000667.1:g.127673928_127673929dup	GRCh37
NC_000005.8:g.127701827_127701828dup	NCBI36
NG_008750.1:g.204812_204813dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-110_257-109dup
ENST00000703785.1:n.338-110_338-109dup
ENST00000262464.9:c.3473-110_3473-109dup MANE Select	ENSP00000262464.4:n.3473-110_3473-109dup
ENST00000262464.8:c.3473-110_3473-109dup	ENSP00000262464.4:n.3473-110_3473-109dup
ENST00000507835.5:c.23-110_23-109dup	ENSP00000426839.1:n.23-110_23-109dup
ENST00000508053.5:c.3473-110_3473-109dup	ENSP00000424571.1:n.3473-110_3473-109dup
ENST00000508989.5:c.3374-110_3374-109dup	ENSP00000425596.1:n.3374-110_3374-109dup
ENST00000619499.4:c.3470-110_3470-109dup	ENSP00000482132.1:n.3470-110_3470-109dup
NM_001999.3:c.3473-110_3473-109dup	NP_001990.2:n.3473-110_3473-109dup
XM_017009228.2:c.3320-110_3320-109dup	XP_016864717.1:n.3320-110_3320-109dup
NM_001999.4:c.3473-110_3473-109dup MANE Select	NP_001990.2:n.3473-110_3473-109dup