Canonical Allele Identifier: CA803626319

Gene: FBN2

Linked Data

• dbSNP Id: rs1214751720
• gnomAD v3: 5-128357039-C-A
• gnomAD v4: 5-128357039-C-A
• MyVariant Identifiers: chr5:g.127692731C>A (hg19) ; chr5:g.128357039C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357039C>A , CM000667.2:g.128357039C>A	GRCh38
NC_000005.9:g.127692731C>A , CM000667.1:g.127692731C>A	GRCh37
NC_000005.8:g.127720630C>A	NCBI36
NG_008750.1:g.186005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262464.9:c.2674+237G>T MANE Select	ENSP00000262464.4:n.2674+237G>T
ENST00000262464.8:c.2674+237G>T	ENSP00000262464.4:n.2674+237G>T
ENST00000508053.5:c.2674+237G>T	ENSP00000424571.1:n.2674+237G>T
ENST00000508989.5:c.2575+237G>T	ENSP00000425596.1:n.2575+237G>T
ENST00000619499.4:c.2671+237G>T	ENSP00000482132.1:n.2671+237G>T
NM_001999.3:c.2674+237G>T	NP_001990.2:n.2674+237G>T
XM_017009228.2:c.2521+237G>T	XP_016864717.1:n.2521+237G>T
NM_001999.4:c.2674+237G>T MANE Select	NP_001990.2:n.2674+237G>T