Canonical Allele Identifier: CA2675116736

Gene: FBN2

Linked Data

• gnomAD v4: 5-128332828-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332828G>A , CM000667.2:g.128332828G>A	GRCh38
NC_000005.9:g.127668520G>A , CM000667.1:g.127668520G>A	GRCh37
NC_000005.8:g.127696419G>A	NCBI36
NG_008750.1:g.210216C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+84C>T
ENST00000703785.1:n.1087+84C>T
ENST00000262464.9:c.4222+84C>T MANE Select	ENSP00000262464.4:n.4222+84C>T
ENST00000262464.8:c.4222+84C>T	ENSP00000262464.4:n.4222+84C>T
ENST00000507835.5:c.772+84C>T	ENSP00000426839.1:n.772+84C>T
ENST00000508053.5:c.4222+84C>T	ENSP00000424571.1:n.4222+84C>T
ENST00000508989.5:c.4123+84C>T	ENSP00000425596.1:n.4123+84C>T
ENST00000619499.4:c.4219+84C>T	ENSP00000482132.1:n.4219+84C>T
NM_001999.3:c.4222+84C>T	NP_001990.2:n.4222+84C>T
XM_017009228.2:c.4069+84C>T	XP_016864717.1:n.4069+84C>T
NM_001999.4:c.4222+84C>T MANE Select	NP_001990.2:n.4222+84C>T