Canonical Allele Identifier: CA3395164

Gene: FBN2

Linked Data

• dbSNP Id: rs778784375
• ExAC: 5:127671689 C / G
• MyVariant Identifiers: chr5:g.127671689C>G (hg19) ; chr5:g.128335997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335997C>G , CM000667.2:g.128335997C>G	GRCh38
NC_000005.9:g.127671689C>G , CM000667.1:g.127671689C>G	GRCh37
NC_000005.8:g.127699588C>G	NCBI36
NG_008750.1:g.207047G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.499G>C
ENST00000703785.1:n.580G>C
ENST00000262464.9:c.3715G>C MANE Select	ENSP00000262464.4:p.Gly1239Arg
ENST00000262464.8:c.3715G>C	ENSP00000262464.4:p.Gly1239Arg
ENST00000507835.5:c.265G>C	ENSP00000426839.1:p.Gly89Arg
ENST00000508053.5:c.3715G>C	ENSP00000424571.1:p.Gly1239Arg
ENST00000508989.5:c.3616G>C	ENSP00000425596.1:p.Gly1206Arg
ENST00000619499.4:c.3712G>C	ENSP00000482132.1:p.Gly1238Arg
NM_001999.3:c.3715G>C	NP_001990.2:p.Gly1239Arg
XM_017009228.2:c.3562G>C	XP_016864717.1:p.Gly1188Arg
NM_001999.4:c.3715G>C MANE Select	NP_001990.2:p.Gly1239Arg