Canonical Allele Identifier: CA650270083

Gene: FBN2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261570_128261571insA , CM000667.2:g.128261570_128261571insA	GRCh38
NC_000005.9:g.127597262_127597263insA , CM000667.1:g.127597262_127597263insA	GRCh37
NC_000005.8:g.127625161_127625162insA	NCBI36
NG_008750.1:g.281473_281474insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8364+165_8364+166insT MANE Select	ENSP00000262464.4:n.8364+165_8364+166insT
ENST00000262464.8:c.8364+165_8364+166insT	ENSP00000262464.4:n.8364+165_8364+166insT
ENST00000508053.5:c.8364+165_8364+166insT	ENSP00000424571.1:n.8364+165_8364+166insT
ENST00000619499.4:c.8361+165_8361+166insT	ENSP00000482132.1:n.8361+165_8361+166insT
NM_001999.3:c.8364+165_8364+166insT	NP_001990.2:n.8364+165_8364+166insT
XM_017009228.2:c.8211+165_8211+166insT	XP_016864717.1:n.8211+165_8211+166insT
NM_001999.4:c.8364+165_8364+166insT MANE Select	NP_001990.2:n.8364+165_8364+166insT