Canonical Allele Identifier: CA1581295394

Gene: FBN2

Linked Data

• dbSNP Id: rs200571171

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395101G>A , CM000667.2:g.128395101G>A	GRCh38
NC_000005.9:g.127730794G>A , CM000667.1:g.127730794G>A	GRCh37
NC_000005.8:g.127758693G>A	NCBI36
NG_008750.1:g.147942C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+21C>T
ENST00000262464.9:c.1231+21C>T MANE Select	ENSP00000262464.4:n.1231+21C>T
ENST00000262464.8:c.1231+21C>T	ENSP00000262464.4:n.1231+21C>T
ENST00000508053.5:c.1231+21C>T	ENSP00000424571.1:n.1231+21C>T
ENST00000508989.5:c.1132+21C>T	ENSP00000425596.1:n.1132+21C>T
ENST00000619499.4:c.1228+21C>T	ENSP00000482132.1:n.1228+21C>T
NM_001999.3:c.1231+21C>T	NP_001990.2:n.1231+21C>T
XM_017009228.2:c.1079-1733C>T	XP_016864717.1:n.1079-1733C>T
NM_001999.4:c.1231+21C>T MANE Select	NP_001990.2:n.1231+21C>T