Canonical Allele Identifier: CA360750794

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127730896T>A (hg19) ; chr5:g.128395203T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395203T>A , CM000667.2:g.128395203T>A	GRCh38
NC_000005.9:g.127730896T>A , CM000667.1:g.127730896T>A	GRCh37
NC_000005.8:g.127758795T>A	NCBI36
NG_008750.1:g.147840A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.857A>T
ENST00000262464.9:c.1150A>T MANE Select	ENSP00000262464.4:p.Thr384Ser
ENST00000262464.8:c.1150A>T	ENSP00000262464.4:p.Thr384Ser
ENST00000508053.5:c.1150A>T	ENSP00000424571.1:p.Thr384Ser
ENST00000508989.5:c.1051A>T	ENSP00000425596.1:p.Thr351Ser
ENST00000619499.4:c.1147A>T	ENSP00000482132.1:p.Thr383Ser
NM_001999.3:c.1150A>T	NP_001990.2:p.Thr384Ser
XM_017009228.2:c.1079-1835A>T	XP_016864717.1:n.1079-1835A>T
NM_001999.4:c.1150A>T MANE Select	NP_001990.2:p.Thr384Ser