Canonical Allele Identifier: CA360767370

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693012C>T (hg19) ; chr5:g.128357320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357320C>T , CM000667.2:g.128357320C>T	GRCh38
NC_000005.9:g.127693012C>T , CM000667.1:g.127693012C>T	GRCh37
NC_000005.8:g.127720911C>T	NCBI36
NG_008750.1:g.185724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2630G>A MANE Select	ENSP00000262464.4:p.Cys877Tyr
ENST00000262464.8:c.2630G>A	ENSP00000262464.4:p.Cys877Tyr
ENST00000508053.5:c.2630G>A	ENSP00000424571.1:p.Cys877Tyr
ENST00000508989.5:c.2531G>A	ENSP00000425596.1:p.Cys844Tyr
ENST00000619499.4:c.2627G>A	ENSP00000482132.1:p.Cys876Tyr
NM_001999.3:c.2630G>A	NP_001990.2:p.Cys877Tyr
XM_017009228.2:c.2477G>A	XP_016864717.1:p.Cys826Tyr
NM_001999.4:c.2630G>A MANE Select	NP_001990.2:p.Cys877Tyr