Canonical Allele Identifier: CA360747823

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127597546G>A (hg19) ; chr5:g.128261854G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128261854G>A , CM000667.2:g.128261854G>A	GRCh38
NC_000005.9:g.127597546G>A , CM000667.1:g.127597546G>A	GRCh37
NC_000005.8:g.127625445G>A	NCBI36
NG_008750.1:g.281190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.8246C>T MANE Select	ENSP00000262464.4:p.Thr2749Ile
ENST00000262464.8:c.8246C>T	ENSP00000262464.4:p.Thr2749Ile
ENST00000508053.5:c.8246C>T	ENSP00000424571.1:p.Thr2749Ile
ENST00000619499.4:c.8243C>T	ENSP00000482132.1:p.Thr2748Ile
NM_001999.3:c.8246C>T	NP_001990.2:p.Thr2749Ile
XM_017009228.2:c.8093C>T	XP_016864717.1:p.Thr2698Ile
NM_001999.4:c.8246C>T MANE Select	NP_001990.2:p.Thr2749Ile