Canonical Allele Identifier: CA446312352

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693056G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357364G>T , CM000667.2:g.128357364G>T	GRCh38
NC_000005.9:g.127693056G>T , CM000667.1:g.127693056G>T	GRCh37
NC_000005.8:g.127720955G>T	NCBI36
NG_008750.1:g.185680C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2586C>A MANE Select	ENSP00000262464.4:p.Val862=
ENST00000262464.8:c.2586C>A	ENSP00000262464.4:p.Val862=
ENST00000508053.5:c.2586C>A	ENSP00000424571.1:p.Val862=
ENST00000508989.5:c.2487C>A	ENSP00000425596.1:p.Val829=
ENST00000619499.4:c.2583C>A	ENSP00000482132.1:p.Val861=
NM_001999.3:c.2586C>A	NP_001990.2:p.Val862=
XM_017009228.2:c.2433C>A	XP_016864717.1:p.Val811=
NM_001999.4:c.2586C>A MANE Select	NP_001990.2:p.Val862=