Canonical Allele Identifier: CA360767518

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693075C>A (hg19) ; chr5:g.128357383C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357383C>A , CM000667.2:g.128357383C>A	GRCh38
NC_000005.9:g.127693075C>A , CM000667.1:g.127693075C>A	GRCh37
NC_000005.8:g.127720974C>A	NCBI36
NG_008750.1:g.185661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2567G>T MANE Select	ENSP00000262464.4:p.Cys856Phe
ENST00000262464.8:c.2567G>T	ENSP00000262464.4:p.Cys856Phe
ENST00000508053.5:c.2567G>T	ENSP00000424571.1:p.Cys856Phe
ENST00000508989.5:c.2468G>T	ENSP00000425596.1:p.Cys823Phe
ENST00000619499.4:c.2564G>T	ENSP00000482132.1:p.Cys855Phe
NM_001999.3:c.2567G>T	NP_001990.2:p.Cys856Phe
XM_017009228.2:c.2414G>T	XP_016864717.1:p.Cys805Phe
NM_001999.4:c.2567G>T MANE Select	NP_001990.2:p.Cys856Phe