Canonical Allele Identifier: CA2675114474

Gene: FBN2

Linked Data

• gnomAD v4: 5-128304834-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304834T>C , CM000667.2:g.128304834T>C	GRCh38
NC_000005.9:g.127640526T>C , CM000667.1:g.127640526T>C	GRCh37
NC_000005.8:g.127668425T>C	NCBI36
NG_008750.1:g.238210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+123A>G
ENST00000703785.1:n.2503+123A>G
ENST00000262464.9:c.5800+123A>G MANE Select	ENSP00000262464.4:n.5800+123A>G
ENST00000262464.8:c.5800+123A>G	ENSP00000262464.4:n.5800+123A>G
ENST00000508053.5:c.5800+123A>G	ENSP00000424571.1:n.5800+123A>G
ENST00000619499.4:c.5797+123A>G	ENSP00000482132.1:n.5797+123A>G
NM_001999.3:c.5800+123A>G	NP_001990.2:n.5800+123A>G
XM_017009228.2:c.5647+123A>G	XP_016864717.1:n.5647+123A>G
NM_001999.4:c.5800+123A>G MANE Select	NP_001990.2:n.5800+123A>G