Canonical Allele Identifier: CA2675114244

Gene: FBN2

Linked Data

• gnomAD v4: 5-128301357-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128301357G>A , CM000667.2:g.128301357G>A	GRCh38
NC_000005.9:g.127637049G>A , CM000667.1:g.127637049G>A	GRCh37
NC_000005.8:g.127664948G>A	NCBI36
NG_008750.1:g.241687C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2830+25C>T
ENST00000703785.1:n.2749+25C>T
ENST00000262464.9:c.6046+25C>T MANE Select	ENSP00000262464.4:n.6046+25C>T
ENST00000262464.8:c.6046+25C>T	ENSP00000262464.4:n.6046+25C>T
ENST00000508053.5:c.6046+25C>T	ENSP00000424571.1:n.6046+25C>T
ENST00000619499.4:c.6043+25C>T	ENSP00000482132.1:n.6043+25C>T
NM_001999.3:c.6046+25C>T	NP_001990.2:n.6046+25C>T
XM_017009228.2:c.5893+25C>T	XP_016864717.1:n.5893+25C>T
NM_001999.4:c.6046+25C>T MANE Select	NP_001990.2:n.6046+25C>T