Canonical Allele Identifier: CA3394999

Gene: FBN2

Linked Data

• dbSNP Id: rs759723849
• ExAC: 5:127666244 C / T
• gnomAD v2: 5-127666244-C-T
• MyVariant Identifiers: chr5:g.127666244C>T (hg19) ; chr5:g.128330552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330552C>T , CM000667.2:g.128330552C>T	GRCh38
NC_000005.9:g.127666244C>T , CM000667.1:g.127666244C>T	GRCh37
NC_000005.8:g.127694143C>T	NCBI36
NG_008750.1:g.212492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1129+21G>A
ENST00000703785.1:n.1210+21G>A
ENST00000262464.9:c.4345+21G>A MANE Select	ENSP00000262464.4:n.4345+21G>A
ENST00000262464.8:c.4345+21G>A	ENSP00000262464.4:n.4345+21G>A
ENST00000507835.5:c.895+21G>A	ENSP00000426839.1:n.895+21G>A
ENST00000508053.5:c.4345+21G>A	ENSP00000424571.1:n.4345+21G>A
ENST00000508989.5:c.4246+21G>A	ENSP00000425596.1:n.4246+21G>A
ENST00000619499.4:c.4342+21G>A	ENSP00000482132.1:n.4342+21G>A
NM_001999.3:c.4345+21G>A	NP_001990.2:n.4345+21G>A
XM_017009228.2:c.4192+21G>A	XP_016864717.1:n.4192+21G>A
NM_001999.4:c.4345+21G>A MANE Select	NP_001990.2:n.4345+21G>A