Canonical Allele Identifier: CA446310712

Gene: FBN2

Linked Data

• dbSNP Id: rs774250442
• MyVariant Identifiers: chr5:g.127673792G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338100G>A , CM000667.2:g.128338100G>A	GRCh38
NC_000005.9:g.127673792G>A , CM000667.1:g.127673792G>A	GRCh37
NC_000005.8:g.127701691G>A	NCBI36
NG_008750.1:g.204944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.279C>T
ENST00000703785.1:n.360C>T
ENST00000262464.9:c.3495C>T MANE Select	ENSP00000262464.4:p.Asn1165=
ENST00000262464.8:c.3495C>T	ENSP00000262464.4:p.Asn1165=
ENST00000507835.5:c.45C>T	ENSP00000426839.1:p.Asn15=
ENST00000508053.5:c.3495C>T	ENSP00000424571.1:p.Asn1165=
ENST00000508989.5:c.3396C>T	ENSP00000425596.1:p.Asn1132=
ENST00000619499.4:c.3492C>T	ENSP00000482132.1:p.Asn1164=
NM_001999.3:c.3495C>T	NP_001990.2:p.Asn1165=
XM_017009228.2:c.3342C>T	XP_016864717.1:p.Asn1114=
NM_001999.4:c.3495C>T MANE Select	NP_001990.2:p.Asn1165=