Canonical Allele Identifier: CA360767448

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693045C>A (hg19) ; chr5:g.128357353C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357353C>A , CM000667.2:g.128357353C>A	GRCh38
NC_000005.9:g.127693045C>A , CM000667.1:g.127693045C>A	GRCh37
NC_000005.8:g.127720944C>A	NCBI36
NG_008750.1:g.185691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2597G>T MANE Select	ENSP00000262464.4:p.Cys866Phe
ENST00000262464.8:c.2597G>T	ENSP00000262464.4:p.Cys866Phe
ENST00000508053.5:c.2597G>T	ENSP00000424571.1:p.Cys866Phe
ENST00000508989.5:c.2498G>T	ENSP00000425596.1:p.Cys833Phe
ENST00000619499.4:c.2594G>T	ENSP00000482132.1:p.Cys865Phe
NM_001999.3:c.2597G>T	NP_001990.2:p.Cys866Phe
XM_017009228.2:c.2444G>T	XP_016864717.1:p.Cys815Phe
NM_001999.4:c.2597G>T MANE Select	NP_001990.2:p.Cys866Phe