Canonical Allele Identifier: CA360739860

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127640684C>A (hg19) ; chr5:g.128304992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304992C>A , CM000667.2:g.128304992C>A	GRCh38
NC_000005.9:g.127640684C>A , CM000667.1:g.127640684C>A	GRCh37
NC_000005.8:g.127668583C>A	NCBI36
NG_008750.1:g.238052G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2549G>T
ENST00000703785.1:n.2468G>T
ENST00000262464.9:c.5765G>T MANE Select	ENSP00000262464.4:p.Gly1922Val
ENST00000262464.8:c.5765G>T	ENSP00000262464.4:p.Gly1922Val
ENST00000508053.5:c.5765G>T	ENSP00000424571.1:p.Gly1922Val
ENST00000619499.4:c.5762G>T	ENSP00000482132.1:p.Gly1921Val
NM_001999.3:c.5765G>T	NP_001990.2:p.Gly1922Val
XM_017009228.2:c.5612G>T	XP_016864717.1:p.Gly1871Val
NM_001999.4:c.5765G>T MANE Select	NP_001990.2:p.Gly1922Val