Canonical Allele Identifier: CA360767471

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127693055T>C (hg19) ; chr5:g.128357363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357363T>C , CM000667.2:g.128357363T>C	GRCh38
NC_000005.9:g.127693055T>C , CM000667.1:g.127693055T>C	GRCh37
NC_000005.8:g.127720954T>C	NCBI36
NG_008750.1:g.185681A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2587A>G MANE Select	ENSP00000262464.4:p.Asn863Asp
ENST00000262464.8:c.2587A>G	ENSP00000262464.4:p.Asn863Asp
ENST00000508053.5:c.2587A>G	ENSP00000424571.1:p.Asn863Asp
ENST00000508989.5:c.2488A>G	ENSP00000425596.1:p.Asn830Asp
ENST00000619499.4:c.2584A>G	ENSP00000482132.1:p.Asn862Asp
NM_001999.3:c.2587A>G	NP_001990.2:p.Asn863Asp
XM_017009228.2:c.2434A>G	XP_016864717.1:p.Asn812Asp
NM_001999.4:c.2587A>G MANE Select	NP_001990.2:p.Asn863Asp