Canonical Allele Identifier: CA360759082

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338001A>C , CM000667.2:g.128338001A>C	GRCh38
NC_000005.9:g.127673693A>C , CM000667.1:g.127673693A>C	GRCh37
NC_000005.8:g.127701592A>C	NCBI36
NG_008750.1:g.205043T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3594T>G MANE Select	NP_001990.2:p.Cys1198Trp
ENST00000262464.9:c.3594T>G MANE Select	ENSP00000262464.4:p.Cys1198Trp
NM_001999.3:c.3594T>G	NP_001990.2:p.Cys1198Trp
ENST00000262464.8:c.3594T>G	ENSP00000262464.4:p.Cys1198Trp
ENST00000507835.5:c.144T>G	ENSP00000426839.1:p.Cys48Trp
ENST00000508053.5:c.3594T>G	ENSP00000424571.1:p.Cys1198Trp
ENST00000508989.5:c.3495T>G	ENSP00000425596.1:p.Cys1165Trp
ENST00000619499.4:c.3591T>G	ENSP00000482132.1:p.Cys1197Trp
ENST00000703783.1:n.378T>G
ENST00000703785.1:n.459T>G
XM_017009228.2:c.3441T>G	XP_016864717.1:p.Cys1147Trp