Canonical Allele Identifier: CA562715464

Gene: FBN2

Linked Data

• dbSNP Id: rs1448131942
• gnomAD v2: 5-127671311-C-T
• gnomAD v4: 5-128335619-C-T
• COSMIC: COSN8491806
• MyVariant Identifiers: chr5:g.127671311C>T (hg19) ; chr5:g.128335619C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335619C>T , CM000667.2:g.128335619C>T	GRCh38
NC_000005.9:g.127671311C>T , CM000667.1:g.127671311C>T	GRCh37
NC_000005.8:g.127699210C>T	NCBI36
NG_008750.1:g.207425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.509-42G>A
ENST00000703785.1:n.590-42G>A
ENST00000262464.9:c.3725-42G>A MANE Select	ENSP00000262464.4:n.3725-42G>A
ENST00000262464.8:c.3725-42G>A	ENSP00000262464.4:n.3725-42G>A
ENST00000507835.5:c.275-42G>A	ENSP00000426839.1:n.275-42G>A
ENST00000508053.5:c.3725-42G>A	ENSP00000424571.1:n.3725-42G>A
ENST00000508989.5:c.3626-42G>A	ENSP00000425596.1:n.3626-42G>A
ENST00000619499.4:c.3722-42G>A	ENSP00000482132.1:n.3722-42G>A
NM_001999.3:c.3725-42G>A	NP_001990.2:n.3725-42G>A
XM_017009228.2:c.3572-42G>A	XP_016864717.1:n.3572-42G>A
NM_001999.4:c.3725-42G>A MANE Select	NP_001990.2:n.3725-42G>A