Canonical Allele Identifier: CA1581253693

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301337_128301338delinsAC , CM000667.2:g.128301337_128301338delinsAC	GRCh38
NC_000005.9:g.127637029_127637030delinsAC , CM000667.1:g.127637029_127637030delinsAC	GRCh37
NC_000005.8:g.127664928_127664929delinsAC	NCBI36
NG_008750.1:g.241706_241707delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+44_2830+45delinsGT
ENST00000703785.1:n.2749+44_2749+45delinsGT
ENST00000262464.9:c.6046+44_6046+45delinsGT MANE Select	ENSP00000262464.4:n.6046+44_6046+45delinsGT
ENST00000262464.8:c.6046+44_6046+45delinsGT	ENSP00000262464.4:n.6046+44_6046+45delinsGT
ENST00000508053.5:c.6046+44_6046+45delinsGT	ENSP00000424571.1:n.6046+44_6046+45delinsGT
ENST00000619499.4:c.6043+44_6043+45delinsGT	ENSP00000482132.1:n.6043+44_6043+45delinsGT
NM_001999.3:c.6046+44_6046+45delinsGT	NP_001990.2:n.6046+44_6046+45delinsGT
XM_017009228.2:c.5893+44_5893+45delinsGT	XP_016864717.1:n.5893+44_5893+45delinsGT
NM_001999.4:c.6046+44_6046+45delinsGT MANE Select	NP_001990.2:n.6046+44_6046+45delinsGT