Canonical Allele Identifier: CA360757536

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127670967T>C (hg19) ; chr5:g.128335275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335275T>C , CM000667.2:g.128335275T>C	GRCh38
NC_000005.9:g.127670967T>C , CM000667.1:g.127670967T>C	GRCh37
NC_000005.8:g.127698866T>C	NCBI36
NG_008750.1:g.207769A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.652A>G
ENST00000703785.1:n.733A>G
ENST00000262464.9:c.3868A>G MANE Select	ENSP00000262464.4:p.Asn1290Asp
ENST00000262464.8:c.3868A>G	ENSP00000262464.4:p.Asn1290Asp
ENST00000507835.5:c.418A>G	ENSP00000426839.1:p.Asn140Asp
ENST00000508053.5:c.3868A>G	ENSP00000424571.1:p.Asn1290Asp
ENST00000508989.5:c.3769A>G	ENSP00000425596.1:p.Asn1257Asp
ENST00000619499.4:c.3865A>G	ENSP00000482132.1:p.Asn1289Asp
NM_001999.3:c.3868A>G	NP_001990.2:p.Asn1290Asp
XM_017009228.2:c.3715A>G	XP_016864717.1:p.Asn1239Asp
NM_001999.4:c.3868A>G MANE Select	NP_001990.2:p.Asn1290Asp