Canonical Allele Identifier: CA360753957

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666304A>C (hg19) ; chr5:g.128330612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330612A>C , CM000667.2:g.128330612A>C	GRCh38
NC_000005.9:g.127666304A>C , CM000667.1:g.127666304A>C	GRCh37
NC_000005.8:g.127694203A>C	NCBI36
NG_008750.1:g.212432T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1090T>G
ENST00000703785.1:n.1171T>G
ENST00000262464.9:c.4306T>G MANE Select	ENSP00000262464.4:p.Cys1436Gly
ENST00000262464.8:c.4306T>G	ENSP00000262464.4:p.Cys1436Gly
ENST00000507835.5:c.856T>G	ENSP00000426839.1:p.Cys286Gly
ENST00000508053.5:c.4306T>G	ENSP00000424571.1:p.Cys1436Gly
ENST00000508989.5:c.4207T>G	ENSP00000425596.1:p.Cys1403Gly
ENST00000619499.4:c.4303T>G	ENSP00000482132.1:p.Cys1435Gly
NM_001999.3:c.4306T>G	NP_001990.2:p.Cys1436Gly
XM_017009228.2:c.4153T>G	XP_016864717.1:p.Cys1385Gly
NM_001999.4:c.4306T>G MANE Select	NP_001990.2:p.Cys1436Gly