Canonical Allele Identifier: CA360753912

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666294C>A (hg19) ; chr5:g.128330602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330602C>A , CM000667.2:g.128330602C>A	GRCh38
NC_000005.9:g.127666294C>A , CM000667.1:g.127666294C>A	GRCh37
NC_000005.8:g.127694193C>A	NCBI36
NG_008750.1:g.212442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1100G>T
ENST00000703785.1:n.1181G>T
ENST00000262464.9:c.4316G>T MANE Select	ENSP00000262464.4:p.Gly1439Val
ENST00000262464.8:c.4316G>T	ENSP00000262464.4:p.Gly1439Val
ENST00000507835.5:c.866G>T	ENSP00000426839.1:p.Gly289Val
ENST00000508053.5:c.4316G>T	ENSP00000424571.1:p.Gly1439Val
ENST00000508989.5:c.4217G>T	ENSP00000425596.1:p.Gly1406Val
ENST00000619499.4:c.4313G>T	ENSP00000482132.1:p.Gly1438Val
NM_001999.3:c.4316G>T	NP_001990.2:p.Gly1439Val
XM_017009228.2:c.4163G>T	XP_016864717.1:p.Gly1388Val
NM_001999.4:c.4316G>T MANE Select	NP_001990.2:p.Gly1439Val