Canonical Allele Identifier: CA360758201

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127671690C>A (hg19) ; chr5:g.128335998C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335998C>A , CM000667.2:g.128335998C>A	GRCh38
NC_000005.9:g.127671690C>A , CM000667.1:g.127671690C>A	GRCh37
NC_000005.8:g.127699589C>A	NCBI36
NG_008750.1:g.207046G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.498G>T
ENST00000703785.1:n.579G>T
ENST00000262464.9:c.3714G>T MANE Select	ENSP00000262464.4:p.Gln1238His
ENST00000262464.8:c.3714G>T	ENSP00000262464.4:p.Gln1238His
ENST00000507835.5:c.264G>T	ENSP00000426839.1:p.Gln88His
ENST00000508053.5:c.3714G>T	ENSP00000424571.1:p.Gln1238His
ENST00000508989.5:c.3615G>T	ENSP00000425596.1:p.Gln1205His
ENST00000619499.4:c.3711G>T	ENSP00000482132.1:p.Gln1237His
NM_001999.3:c.3714G>T	NP_001990.2:p.Gln1238His
XM_017009228.2:c.3561G>T	XP_016864717.1:p.Gln1187His
NM_001999.4:c.3714G>T MANE Select	NP_001990.2:p.Gln1238His