Canonical Allele Identifier: CA803648473

Gene: FBN2

Linked Data

• dbSNP Id: rs1240964408
• gnomAD v3: 5-128395028-C-T
• gnomAD v4: 5-128395028-C-T
• MyVariant Identifiers: chr5:g.127730721C>T (hg19) ; chr5:g.128395028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395028C>T , CM000667.2:g.128395028C>T	GRCh38
NC_000005.9:g.127730721C>T , CM000667.1:g.127730721C>T	GRCh37
NC_000005.8:g.127758620C>T	NCBI36
NG_008750.1:g.148015G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+94G>A
ENST00000262464.9:c.1231+94G>A MANE Select	ENSP00000262464.4:n.1231+94G>A
ENST00000262464.8:c.1231+94G>A	ENSP00000262464.4:n.1231+94G>A
ENST00000508053.5:c.1231+94G>A	ENSP00000424571.1:n.1231+94G>A
ENST00000508989.5:c.1132+94G>A	ENSP00000425596.1:n.1132+94G>A
ENST00000619499.4:c.1228+94G>A	ENSP00000482132.1:n.1228+94G>A
NM_001999.3:c.1231+94G>A	NP_001990.2:n.1231+94G>A
XM_017009228.2:c.1079-1660G>A	XP_016864717.1:n.1079-1660G>A
NM_001999.4:c.1231+94G>A MANE Select	NP_001990.2:n.1231+94G>A