Canonical Allele Identifier: CA2578396249

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330743G>A , CM000667.2:g.128330743G>A	GRCh38
NC_000005.9:g.127666435G>A , CM000667.1:g.127666435G>A	GRCh37
NC_000005.8:g.127694334G>A	NCBI36
NG_008750.1:g.212301C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-48C>T
ENST00000703785.1:n.1088-48C>T
ENST00000262464.9:c.4223-48C>T MANE Select	ENSP00000262464.4:n.4223-48C>T
ENST00000262464.8:c.4223-48C>T	ENSP00000262464.4:n.4223-48C>T
ENST00000507835.5:c.773-48C>T	ENSP00000426839.1:n.773-48C>T
ENST00000508053.5:c.4223-48C>T	ENSP00000424571.1:n.4223-48C>T
ENST00000508989.5:c.4124-48C>T	ENSP00000425596.1:n.4124-48C>T
ENST00000619499.4:c.4220-48C>T	ENSP00000482132.1:n.4220-48C>T
NM_001999.3:c.4223-48C>T	NP_001990.2:n.4223-48C>T
XM_017009228.2:c.4070-48C>T	XP_016864717.1:n.4070-48C>T
NM_001999.4:c.4223-48C>T MANE Select	NP_001990.2:n.4223-48C>T