Canonical Allele Identifier: CA360757532

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670966T>A (hg19) ; chr5:g.128335274T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335274T>A , CM000667.2:g.128335274T>A	GRCh38
NC_000005.9:g.127670966T>A , CM000667.1:g.127670966T>A	GRCh37
NC_000005.8:g.127698865T>A	NCBI36
NG_008750.1:g.207770A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.653A>T
ENST00000703785.1:n.734A>T
ENST00000262464.9:c.3869A>T MANE Select	ENSP00000262464.4:p.Asn1290Ile
ENST00000262464.8:c.3869A>T	ENSP00000262464.4:p.Asn1290Ile
ENST00000507835.5:c.419A>T	ENSP00000426839.1:p.Asn140Ile
ENST00000508053.5:c.3869A>T	ENSP00000424571.1:p.Asn1290Ile
ENST00000508989.5:c.3770A>T	ENSP00000425596.1:p.Asn1257Ile
ENST00000619499.4:c.3866A>T	ENSP00000482132.1:p.Asn1289Ile
NM_001999.3:c.3869A>T	NP_001990.2:p.Asn1290Ile
XM_017009228.2:c.3716A>T	XP_016864717.1:p.Asn1239Ile
NM_001999.4:c.3869A>T MANE Select	NP_001990.2:p.Asn1290Ile