Canonical Allele Identifier: CA360757240

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128334832C>T , CM000667.2:g.128334832C>T	GRCh38
NC_000005.9:g.127670524C>T , CM000667.1:g.127670524C>T	GRCh37
NC_000005.8:g.127698423C>T	NCBI36
NG_008750.1:g.208212G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3986G>A MANE Select	NP_001990.2:p.Cys1329Tyr
ENST00000262464.9:c.3986G>A MANE Select	ENSP00000262464.4:p.Cys1329Tyr
NM_001999.3:c.3986G>A	NP_001990.2:p.Cys1329Tyr
ENST00000262464.8:c.3986G>A	ENSP00000262464.4:p.Cys1329Tyr
ENST00000507835.5:c.536G>A	ENSP00000426839.1:p.Cys179Tyr
ENST00000508053.5:c.3986G>A	ENSP00000424571.1:p.Cys1329Tyr
ENST00000508989.5:c.3887G>A	ENSP00000425596.1:p.Cys1296Tyr
ENST00000619499.4:c.3983G>A	ENSP00000482132.1:p.Cys1328Tyr
ENST00000703783.1:n.770G>A
ENST00000703785.1:n.851G>A
XM_017009228.2:c.3833G>A	XP_016864717.1:p.Cys1278Tyr