Canonical Allele Identifier: CA360758196

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335994A>C , CM000667.2:g.128335994A>C	GRCh38
NC_000005.9:g.127671686A>C , CM000667.1:g.127671686A>C	GRCh37
NC_000005.8:g.127699585A>C	NCBI36
NG_008750.1:g.207050T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001999.4:c.3718T>G MANE Select	NP_001990.2:p.Cys1240Gly
ENST00000262464.9:c.3718T>G MANE Select	ENSP00000262464.4:p.Cys1240Gly
NM_001999.3:c.3718T>G	NP_001990.2:p.Cys1240Gly
ENST00000262464.8:c.3718T>G	ENSP00000262464.4:p.Cys1240Gly
ENST00000507835.5:c.268T>G	ENSP00000426839.1:p.Cys90Gly
ENST00000508053.5:c.3718T>G	ENSP00000424571.1:p.Cys1240Gly
ENST00000508989.5:c.3619T>G	ENSP00000425596.1:p.Cys1207Gly
ENST00000619499.4:c.3715T>G	ENSP00000482132.1:p.Cys1239Gly
ENST00000703783.1:n.502T>G
ENST00000703785.1:n.583T>G
XM_017009228.2:c.3565T>G	XP_016864717.1:p.Cys1189Gly