Canonical Allele Identifier: CA360758132

Gene: FBN2

Linked Data

• dbSNP Id: rs1750813693
• MyVariant Identifiers: chr5:g.127671255T>C (hg19) ; chr5:g.128335563T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335563T>C , CM000667.2:g.128335563T>C	GRCh38
NC_000005.9:g.127671255T>C , CM000667.1:g.127671255T>C	GRCh37
NC_000005.8:g.127699154T>C	NCBI36
NG_008750.1:g.207481A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.523A>G
ENST00000703785.1:n.604A>G
ENST00000262464.9:c.3739A>G MANE Select	ENSP00000262464.4:p.Met1247Val
ENST00000262464.8:c.3739A>G	ENSP00000262464.4:p.Met1247Val
ENST00000507835.5:c.289A>G	ENSP00000426839.1:p.Met97Val
ENST00000508053.5:c.3739A>G	ENSP00000424571.1:p.Met1247Val
ENST00000508989.5:c.3640A>G	ENSP00000425596.1:p.Met1214Val
ENST00000619499.4:c.3736A>G	ENSP00000482132.1:p.Met1246Val
NM_001999.3:c.3739A>G	NP_001990.2:p.Met1247Val
XM_017009228.2:c.3586A>G	XP_016864717.1:p.Met1196Val
NM_001999.4:c.3739A>G MANE Select	NP_001990.2:p.Met1247Val