Canonical Allele Identifier: CA360767278

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127692976A>G (hg19) ; chr5:g.128357284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357284A>G , CM000667.2:g.128357284A>G	GRCh38
NC_000005.9:g.127692976A>G , CM000667.1:g.127692976A>G	GRCh37
NC_000005.8:g.127720875A>G	NCBI36
NG_008750.1:g.185760T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2666T>C MANE Select	ENSP00000262464.4:p.Ile889Thr
ENST00000262464.8:c.2666T>C	ENSP00000262464.4:p.Ile889Thr
ENST00000508053.5:c.2666T>C	ENSP00000424571.1:p.Ile889Thr
ENST00000508989.5:c.2567T>C	ENSP00000425596.1:p.Ile856Thr
ENST00000619499.4:c.2663T>C	ENSP00000482132.1:p.Ile888Thr
NM_001999.3:c.2666T>C	NP_001990.2:p.Ile889Thr
XM_017009228.2:c.2513T>C	XP_016864717.1:p.Ile838Thr
NM_001999.4:c.2666T>C MANE Select	NP_001990.2:p.Ile889Thr