Canonical Allele Identifier: CA360754143

Gene: FBN2

Linked Data

• MyVariant Identifiers: chr5:g.127666353A>C (hg19) ; chr5:g.128330661A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330661A>C , CM000667.2:g.128330661A>C	GRCh38
NC_000005.9:g.127666353A>C , CM000667.1:g.127666353A>C	GRCh37
NC_000005.8:g.127694252A>C	NCBI36
NG_008750.1:g.212383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1041T>G
ENST00000703785.1:n.1122T>G
ENST00000262464.9:c.4257T>G MANE Select	ENSP00000262464.4:p.Cys1419Trp
ENST00000262464.8:c.4257T>G	ENSP00000262464.4:p.Cys1419Trp
ENST00000507835.5:c.807T>G	ENSP00000426839.1:p.Cys269Trp
ENST00000508053.5:c.4257T>G	ENSP00000424571.1:p.Cys1419Trp
ENST00000508989.5:c.4158T>G	ENSP00000425596.1:p.Cys1386Trp
ENST00000619499.4:c.4254T>G	ENSP00000482132.1:p.Cys1418Trp
NM_001999.3:c.4257T>G	NP_001990.2:p.Cys1419Trp
XM_017009228.2:c.4104T>G	XP_016864717.1:p.Cys1368Trp
NM_001999.4:c.4257T>G MANE Select	NP_001990.2:p.Cys1419Trp