Canonical Allele Identifier: CA360754165

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666361G>T (hg19) ; chr5:g.128330669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330669G>T , CM000667.2:g.128330669G>T	GRCh38
NC_000005.9:g.127666361G>T , CM000667.1:g.127666361G>T	GRCh37
NC_000005.8:g.127694260G>T	NCBI36
NG_008750.1:g.212375C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1033C>A
ENST00000703785.1:n.1114C>A
ENST00000262464.9:c.4249C>A MANE Select	ENSP00000262464.4:p.His1417Asn
ENST00000262464.8:c.4249C>A	ENSP00000262464.4:p.His1417Asn
ENST00000507835.5:c.799C>A	ENSP00000426839.1:p.His267Asn
ENST00000508053.5:c.4249C>A	ENSP00000424571.1:p.His1417Asn
ENST00000508989.5:c.4150C>A	ENSP00000425596.1:p.His1384Asn
ENST00000619499.4:c.4246C>A	ENSP00000482132.1:p.His1416Asn
NM_001999.3:c.4249C>A	NP_001990.2:p.His1417Asn
XM_017009228.2:c.4096C>A	XP_016864717.1:p.His1366Asn
NM_001999.4:c.4249C>A MANE Select	NP_001990.2:p.His1417Asn