Canonical Allele Identifier: CA803637345

Gene: FBN2

Linked Data

• dbSNP Id: rs1257925286
• gnomAD v4: 5-128335864-C-T
• MyVariant Identifiers: chr5:g.127671556C>T (hg19) ; chr5:g.128335864C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335864C>T , CM000667.2:g.128335864C>T	GRCh38
NC_000005.9:g.127671556C>T , CM000667.1:g.127671556C>T	GRCh37
NC_000005.8:g.127699455C>T	NCBI36
NG_008750.1:g.207180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.508+124G>A
ENST00000703785.1:n.589+124G>A
ENST00000262464.9:c.3724+124G>A MANE Select	ENSP00000262464.4:n.3724+124G>A
ENST00000262464.8:c.3724+124G>A	ENSP00000262464.4:n.3724+124G>A
ENST00000507835.5:c.274+124G>A	ENSP00000426839.1:n.274+124G>A
ENST00000508053.5:c.3724+124G>A	ENSP00000424571.1:n.3724+124G>A
ENST00000508989.5:c.3625+124G>A	ENSP00000425596.1:n.3625+124G>A
ENST00000619499.4:c.3721+124G>A	ENSP00000482132.1:n.3721+124G>A
NM_001999.3:c.3724+124G>A	NP_001990.2:n.3724+124G>A
XM_017009228.2:c.3571+124G>A	XP_016864717.1:n.3571+124G>A
NM_001999.4:c.3724+124G>A MANE Select	NP_001990.2:n.3724+124G>A