Canonical Allele Identifier: CA1581273697

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344324_128344328delinsTCAAA , CM000667.2:g.128344324_128344328delinsTCAAA	GRCh38
NC_000005.9:g.127680016_127680020delinsTCAAA , CM000667.1:g.127680016_127680020delinsTCAAA	GRCh37
NC_000005.8:g.127707915_127707919delinsTCAAA	NCBI36
NG_008750.1:g.198716_198720delinsTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.3343+57_3343+61delinsTTTGA MANE Select	ENSP00000262464.4:n.3343+57_3343+61delinsTTTGA
ENST00000262464.8:c.3343+57_3343+61delinsTTTGA	ENSP00000262464.4:n.3343+57_3343+61delinsTTTGA
ENST00000508053.5:c.3343+57_3343+61delinsTTTGA	ENSP00000424571.1:n.3343+57_3343+61delinsTTTGA
ENST00000508989.5:c.3244+57_3244+61delinsTTTGA	ENSP00000425596.1:n.3244+57_3244+61delinsTTTGA
ENST00000619499.4:c.3340+57_3340+61delinsTTTGA	ENSP00000482132.1:n.3340+57_3340+61delinsTTTGA
NM_001999.3:c.3343+57_3343+61delinsTTTGA	NP_001990.2:n.3343+57_3343+61delinsTTTGA
XM_017009228.2:c.3190+57_3190+61delinsTTTGA	XP_016864717.1:n.3190+57_3190+61delinsTTTGA
NM_001999.4:c.3343+57_3343+61delinsTTTGA MANE Select	NP_001990.2:n.3343+57_3343+61delinsTTTGA