Canonical Allele Identifier: CA2535695094

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304531_128304532insTTT , CM000667.2:g.128304531_128304532insTTT	GRCh38
NC_000005.9:g.127640223_127640224insTTT , CM000667.1:g.127640223_127640224insTTT	GRCh37
NC_000005.8:g.127668122_127668123insTTT	NCBI36
NG_008750.1:g.238513_238514insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+426_2584+427insAAA
ENST00000703785.1:n.2503+426_2503+427insAAA
ENST00000262464.9:c.5800+426_5800+427insAAA MANE Select	ENSP00000262464.4:n.5800+426_5800+427insAAA
ENST00000262464.8:c.5800+426_5800+427insAAA	ENSP00000262464.4:n.5800+426_5800+427insAAA
ENST00000508053.5:c.5800+426_5800+427insAAA	ENSP00000424571.1:n.5800+426_5800+427insAAA
ENST00000619499.4:c.5797+426_5797+427insAAA	ENSP00000482132.1:n.5797+426_5797+427insAAA
NM_001999.3:c.5800+426_5800+427insAAA	NP_001990.2:n.5800+426_5800+427insAAA
XM_017009228.2:c.5647+426_5647+427insAAA	XP_016864717.1:n.5647+426_5647+427insAAA
NM_001999.4:c.5800+426_5800+427insAAA MANE Select	NP_001990.2:n.5800+426_5800+427insAAA