Canonical Allele Identifier: CA803633016

Gene: FBN2

Linked Data

• dbSNP Id: rs1425833997
• gnomAD v3: 5-128330469-G-C
• gnomAD v4: 5-128330469-G-C
• MyVariant Identifiers: chr5:g.127666161G>C (hg19) ; chr5:g.128330469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330469G>C , CM000667.2:g.128330469G>C	GRCh38
NC_000005.9:g.127666161G>C , CM000667.1:g.127666161G>C	GRCh37
NC_000005.8:g.127694060G>C	NCBI36
NG_008750.1:g.212575C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1129+104C>G
ENST00000703785.1:n.1210+104C>G
ENST00000262464.9:c.4345+104C>G MANE Select	ENSP00000262464.4:n.4345+104C>G
ENST00000262464.8:c.4345+104C>G	ENSP00000262464.4:n.4345+104C>G
ENST00000507835.5:c.895+104C>G	ENSP00000426839.1:n.895+104C>G
ENST00000508053.5:c.4345+104C>G	ENSP00000424571.1:n.4345+104C>G
ENST00000508989.5:c.4246+104C>G	ENSP00000425596.1:n.4246+104C>G
ENST00000619499.4:c.4342+104C>G	ENSP00000482132.1:n.4342+104C>G
NM_001999.3:c.4345+104C>G	NP_001990.2:n.4345+104C>G
XM_017009228.2:c.4192+104C>G	XP_016864717.1:n.4192+104C>G
NM_001999.4:c.4345+104C>G MANE Select	NP_001990.2:n.4345+104C>G