Canonical Allele Identifier: CA803633048

Gene: FBN2

Linked Data

• dbSNP Id: rs1367534934
• gnomAD v3: 5-128330562-C-G
• gnomAD v4: 5-128330562-C-G
• MyVariant Identifiers: chr5:g.127666254C>G (hg19) ; chr5:g.128330562C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330562C>G , CM000667.2:g.128330562C>G	GRCh38
NC_000005.9:g.127666254C>G , CM000667.1:g.127666254C>G	GRCh37
NC_000005.8:g.127694153C>G	NCBI36
NG_008750.1:g.212482G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1129+11G>C
ENST00000703785.1:n.1210+11G>C
ENST00000262464.9:c.4345+11G>C MANE Select	ENSP00000262464.4:n.4345+11G>C
ENST00000262464.8:c.4345+11G>C	ENSP00000262464.4:n.4345+11G>C
ENST00000507835.5:c.895+11G>C	ENSP00000426839.1:n.895+11G>C
ENST00000508053.5:c.4345+11G>C	ENSP00000424571.1:n.4345+11G>C
ENST00000508989.5:c.4246+11G>C	ENSP00000425596.1:n.4246+11G>C
ENST00000619499.4:c.4342+11G>C	ENSP00000482132.1:n.4342+11G>C
NM_001999.3:c.4345+11G>C	NP_001990.2:n.4345+11G>C
XM_017009228.2:c.4192+11G>C	XP_016864717.1:n.4192+11G>C
NM_001999.4:c.4345+11G>C MANE Select	NP_001990.2:n.4345+11G>C