Canonical Allele Identifier: CA360759332

Gene: FBN2

Linked Data

• COSMIC: COSM6303032 ; COSM6303033
• MyVariant Identifiers: chr5:g.127673739C>T (hg19) ; chr5:g.128338047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338047C>T , CM000667.2:g.128338047C>T	GRCh38
NC_000005.9:g.127673739C>T , CM000667.1:g.127673739C>T	GRCh37
NC_000005.8:g.127701638C>T	NCBI36
NG_008750.1:g.204997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.332G>A
ENST00000703785.1:n.413G>A
ENST00000262464.9:c.3548G>A MANE Select	ENSP00000262464.4:p.Cys1183Tyr
ENST00000262464.8:c.3548G>A	ENSP00000262464.4:p.Cys1183Tyr
ENST00000507835.5:c.98G>A	ENSP00000426839.1:p.Cys33Tyr
ENST00000508053.5:c.3548G>A	ENSP00000424571.1:p.Cys1183Tyr
ENST00000508989.5:c.3449G>A	ENSP00000425596.1:p.Cys1150Tyr
ENST00000619499.4:c.3545G>A	ENSP00000482132.1:p.Cys1182Tyr
NM_001999.3:c.3548G>A	NP_001990.2:p.Cys1183Tyr
XM_017009228.2:c.3395G>A	XP_016864717.1:p.Cys1132Tyr
NM_001999.4:c.3548G>A MANE Select	NP_001990.2:p.Cys1183Tyr