Canonical Allele Identifier: CA360759623

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1313761
• ClinVar RCV Id: RCV001769407
• dbSNP Id: rs2126902237
• MyVariant Identifiers: chr5:g.127673815C>G (hg19) ; chr5:g.128338123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338123C>G , CM000667.2:g.128338123C>G	GRCh38
NC_000005.9:g.127673815C>G , CM000667.1:g.127673815C>G	GRCh37
NC_000005.8:g.127701714C>G	NCBI36
NG_008750.1:g.204921G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.257-1G>C
ENST00000703785.1:n.338-1G>C
ENST00000262464.9:c.3473-1G>C MANE Select	ENSP00000262464.4:n.3473-1G>C
ENST00000262464.8:c.3473-1G>C	ENSP00000262464.4:n.3473-1G>C
ENST00000507835.5:c.23-1G>C	ENSP00000426839.1:n.23-1G>C
ENST00000508053.5:c.3473-1G>C	ENSP00000424571.1:n.3473-1G>C
ENST00000508989.5:c.3374-1G>C	ENSP00000425596.1:n.3374-1G>C
ENST00000619499.4:c.3470-1G>C	ENSP00000482132.1:n.3470-1G>C
NM_001999.3:c.3473-1G>C	NP_001990.2:n.3473-1G>C
XM_017009228.2:c.3320-1G>C	XP_016864717.1:n.3320-1G>C
NM_001999.4:c.3473-1G>C MANE Select	NP_001990.2:n.3473-1G>C