Canonical Allele Identifier: CA2675116638

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330744-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330744C>T , CM000667.2:g.128330744C>T	GRCh38
NC_000005.9:g.127666436C>T , CM000667.1:g.127666436C>T	GRCh37
NC_000005.8:g.127694335C>T	NCBI36
NG_008750.1:g.212300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-49G>A
ENST00000703785.1:n.1088-49G>A
ENST00000262464.9:c.4223-49G>A MANE Select	ENSP00000262464.4:n.4223-49G>A
ENST00000262464.8:c.4223-49G>A	ENSP00000262464.4:n.4223-49G>A
ENST00000507835.5:c.773-49G>A	ENSP00000426839.1:n.773-49G>A
ENST00000508053.5:c.4223-49G>A	ENSP00000424571.1:n.4223-49G>A
ENST00000508989.5:c.4124-49G>A	ENSP00000425596.1:n.4124-49G>A
ENST00000619499.4:c.4220-49G>A	ENSP00000482132.1:n.4220-49G>A
NM_001999.3:c.4223-49G>A	NP_001990.2:n.4223-49G>A
XM_017009228.2:c.4070-49G>A	XP_016864717.1:n.4070-49G>A
NM_001999.4:c.4223-49G>A MANE Select	NP_001990.2:n.4223-49G>A