Canonical Allele Identifier: CA360757998

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671196G>C (hg19) ; chr5:g.128335504G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335504G>C , CM000667.2:g.128335504G>C	GRCh38
NC_000005.9:g.127671196G>C , CM000667.1:g.127671196G>C	GRCh37
NC_000005.8:g.127699095G>C	NCBI36
NG_008750.1:g.207540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.582C>G
ENST00000703785.1:n.663C>G
ENST00000262464.9:c.3798C>G MANE Select	ENSP00000262464.4:p.Cys1266Trp
ENST00000262464.8:c.3798C>G	ENSP00000262464.4:p.Cys1266Trp
ENST00000507835.5:c.348C>G	ENSP00000426839.1:p.Cys116Trp
ENST00000508053.5:c.3798C>G	ENSP00000424571.1:p.Cys1266Trp
ENST00000508989.5:c.3699C>G	ENSP00000425596.1:p.Cys1233Trp
ENST00000619499.4:c.3795C>G	ENSP00000482132.1:p.Cys1265Trp
NM_001999.3:c.3798C>G	NP_001990.2:p.Cys1266Trp
XM_017009228.2:c.3645C>G	XP_016864717.1:p.Cys1215Trp
NM_001999.4:c.3798C>G MANE Select	NP_001990.2:p.Cys1266Trp