Canonical Allele Identifier: CA360757987

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1003634
• ClinVar RCV Id: RCV001300210
• dbSNP Id: rs1750811749
• MyVariant Identifiers: chr5:g.127671191C>G (hg19) ; chr5:g.128335499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335499C>G , CM000667.2:g.128335499C>G	GRCh38
NC_000005.9:g.127671191C>G , CM000667.1:g.127671191C>G	GRCh37
NC_000005.8:g.127699090C>G	NCBI36
NG_008750.1:g.207545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.587G>C
ENST00000703785.1:n.668G>C
ENST00000262464.9:c.3803G>C MANE Select	ENSP00000262464.4:p.Cys1268Ser
ENST00000262464.8:c.3803G>C	ENSP00000262464.4:p.Cys1268Ser
ENST00000507835.5:c.353G>C	ENSP00000426839.1:p.Cys118Ser
ENST00000508053.5:c.3803G>C	ENSP00000424571.1:p.Cys1268Ser
ENST00000508989.5:c.3704G>C	ENSP00000425596.1:p.Cys1235Ser
ENST00000619499.4:c.3800G>C	ENSP00000482132.1:p.Cys1267Ser
NM_001999.3:c.3803G>C	NP_001990.2:p.Cys1268Ser
XM_017009228.2:c.3650G>C	XP_016864717.1:p.Cys1217Ser
NM_001999.4:c.3803G>C MANE Select	NP_001990.2:p.Cys1268Ser