Canonical Allele Identifier: CA360755344

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127668703C>T (hg19) ; chr5:g.128333011C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333011C>T , CM000667.2:g.128333011C>T	GRCh38
NC_000005.9:g.127668703C>T , CM000667.1:g.127668703C>T	GRCh37
NC_000005.8:g.127696602C>T	NCBI36
NG_008750.1:g.210033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.907G>A
ENST00000703785.1:n.988G>A
ENST00000262464.9:c.4123G>A MANE Select	ENSP00000262464.4:p.Ala1375Thr
ENST00000262464.8:c.4123G>A	ENSP00000262464.4:p.Ala1375Thr
ENST00000507835.5:c.673G>A	ENSP00000426839.1:p.Ala225Thr
ENST00000508053.5:c.4123G>A	ENSP00000424571.1:p.Ala1375Thr
ENST00000508989.5:c.4024G>A	ENSP00000425596.1:p.Ala1342Thr
ENST00000619499.4:c.4120G>A	ENSP00000482132.1:p.Ala1374Thr
NM_001999.3:c.4123G>A	NP_001990.2:p.Ala1375Thr
XM_017009228.2:c.3970G>A	XP_016864717.1:p.Ala1324Thr
NM_001999.4:c.4123G>A MANE Select	NP_001990.2:p.Ala1375Thr