Canonical Allele Identifier: CA360767418

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693033A>C (hg19) ; chr5:g.128357341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357341A>C , CM000667.2:g.128357341A>C	GRCh38
NC_000005.9:g.127693033A>C , CM000667.1:g.127693033A>C	GRCh37
NC_000005.8:g.127720932A>C	NCBI36
NG_008750.1:g.185703T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2609T>G MANE Select	ENSP00000262464.4:p.Leu870Arg
ENST00000262464.8:c.2609T>G	ENSP00000262464.4:p.Leu870Arg
ENST00000508053.5:c.2609T>G	ENSP00000424571.1:p.Leu870Arg
ENST00000508989.5:c.2510T>G	ENSP00000425596.1:p.Leu837Arg
ENST00000619499.4:c.2606T>G	ENSP00000482132.1:p.Leu869Arg
NM_001999.3:c.2609T>G	NP_001990.2:p.Leu870Arg
XM_017009228.2:c.2456T>G	XP_016864717.1:p.Leu819Arg
NM_001999.4:c.2609T>G MANE Select	NP_001990.2:p.Leu870Arg