Canonical Allele Identifier: CA360759498

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127673787A>T (hg19) ; chr5:g.128338095A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338095A>T , CM000667.2:g.128338095A>T	GRCh38
NC_000005.9:g.127673787A>T , CM000667.1:g.127673787A>T	GRCh37
NC_000005.8:g.127701686A>T	NCBI36
NG_008750.1:g.204949T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.284T>A
ENST00000703785.1:n.365T>A
ENST00000262464.9:c.3500T>A MANE Select	ENSP00000262464.4:p.Leu1167His
ENST00000262464.8:c.3500T>A	ENSP00000262464.4:p.Leu1167His
ENST00000507835.5:c.50T>A	ENSP00000426839.1:p.Leu17His
ENST00000508053.5:c.3500T>A	ENSP00000424571.1:p.Leu1167His
ENST00000508989.5:c.3401T>A	ENSP00000425596.1:p.Leu1134His
ENST00000619499.4:c.3497T>A	ENSP00000482132.1:p.Leu1166His
NM_001999.3:c.3500T>A	NP_001990.2:p.Leu1167His
XM_017009228.2:c.3347T>A	XP_016864717.1:p.Leu1116His
NM_001999.4:c.3500T>A MANE Select	NP_001990.2:p.Leu1167His