Canonical Allele Identifier: CA1581284159

Gene: FBN2

Linked Data

• dbSNP Id: rs1751642130
• gnomAD v4: 5-128361695-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128361695C>A , CM000667.2:g.128361695C>A	GRCh38
NC_000005.9:g.127697388C>A , CM000667.1:g.127697388C>A	GRCh37
NC_000005.8:g.127725287C>A	NCBI36
NG_008750.1:g.181348G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2554+28G>T MANE Select	ENSP00000262464.4:n.2554+28G>T
ENST00000262464.8:c.2554+28G>T	ENSP00000262464.4:n.2554+28G>T
ENST00000508053.5:c.2554+28G>T	ENSP00000424571.1:n.2554+28G>T
ENST00000508989.5:c.2455+28G>T	ENSP00000425596.1:n.2455+28G>T
ENST00000619499.4:c.2551+28G>T	ENSP00000482132.1:n.2551+28G>T
NM_001999.3:c.2554+28G>T	NP_001990.2:n.2554+28G>T
XM_017009228.2:c.2401+28G>T	XP_016864717.1:n.2401+28G>T
NM_001999.4:c.2554+28G>T MANE Select	NP_001990.2:n.2554+28G>T