Canonical Allele Identifier: CA360753806

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1739861
• ClinVar RCV Id: RCV002332198
• MyVariant Identifiers: chr5:g.127666270C>A (hg19) ; chr5:g.128330578C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330578C>A , CM000667.2:g.128330578C>A	GRCh38
NC_000005.9:g.127666270C>A , CM000667.1:g.127666270C>A	GRCh37
NC_000005.8:g.127694169C>A	NCBI36
NG_008750.1:g.212466G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1124G>T
ENST00000703785.1:n.1205G>T
ENST00000262464.9:c.4340G>T MANE Select	ENSP00000262464.4:p.Cys1447Phe
ENST00000262464.8:c.4340G>T	ENSP00000262464.4:p.Cys1447Phe
ENST00000507835.5:c.890G>T	ENSP00000426839.1:p.Cys297Phe
ENST00000508053.5:c.4340G>T	ENSP00000424571.1:p.Cys1447Phe
ENST00000508989.5:c.4241G>T	ENSP00000425596.1:p.Cys1414Phe
ENST00000619499.4:c.4337G>T	ENSP00000482132.1:p.Cys1446Phe
NM_001999.3:c.4340G>T	NP_001990.2:p.Cys1447Phe
XM_017009228.2:c.4187G>T	XP_016864717.1:p.Cys1396Phe
NM_001999.4:c.4340G>T MANE Select	NP_001990.2:p.Cys1447Phe