Canonical Allele Identifier: CA10620132

Gene: FBN2

Linked Data

• ClinVar Variation Id: 350790
• ClinVar RCV Id: RCV000312264
• dbSNP Id: rs886059903
• MyVariant Identifiers: chr5:g.127800479G>A (hg19) ; chr5:g.128464786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464786G>A , CM000667.2:g.128464786G>A	GRCh38
NC_000005.9:g.127800479G>A , CM000667.1:g.127800479G>A	GRCh37
NC_000005.8:g.127828378G>A	NCBI36
NG_008750.1:g.78257C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.764C>T	ENSP00000424571.2:p.Pro255Leu
ENST00000703787.1:n.471C>T
ENST00000262464.9:c.764C>T MANE Select	ENSP00000262464.4:p.Pro255Leu
ENST00000262464.8:c.764C>T	ENSP00000262464.4:p.Pro255Leu
ENST00000502468.5:c.764C>T	ENSP00000424753.1:p.Pro255Leu
ENST00000508053.5:c.764C>T	ENSP00000424571.1:p.Pro255Leu
ENST00000508989.5:c.665C>T	ENSP00000425596.1:p.Pro222Leu
ENST00000514742.1:n.1384C>T
ENST00000619499.4:c.761C>T	ENSP00000482132.1:p.Pro254Leu
ENST00000620257.1:c.764C>T	ENSP00000479157.1:p.Pro255Leu
NM_001999.3:c.764C>T	NP_001990.2:p.Pro255Leu
XM_017009228.2:c.764C>T	XP_016864717.1:p.Pro255Leu
NM_001999.4:c.764C>T MANE Select	NP_001990.2:p.Pro255Leu