Canonical Allele Identifier: CA803629252

Gene: FBN2

Linked Data

• dbSNP Id: rs1364084612
• MyVariant Identifiers: chr5:g.127640333G>A (hg19) ; chr5:g.128304641G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304641G>A , CM000667.2:g.128304641G>A	GRCh38
NC_000005.9:g.127640333G>A , CM000667.1:g.127640333G>A	GRCh37
NC_000005.8:g.127668232G>A	NCBI36
NG_008750.1:g.238403C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2584+316C>T
ENST00000703785.1:n.2503+316C>T
ENST00000262464.9:c.5800+316C>T MANE Select	ENSP00000262464.4:n.5800+316C>T
ENST00000262464.8:c.5800+316C>T	ENSP00000262464.4:n.5800+316C>T
ENST00000508053.5:c.5800+316C>T	ENSP00000424571.1:n.5800+316C>T
ENST00000619499.4:c.5797+316C>T	ENSP00000482132.1:n.5797+316C>T
NM_001999.3:c.5800+316C>T	NP_001990.2:n.5800+316C>T
XM_017009228.2:c.5647+316C>T	XP_016864717.1:n.5647+316C>T
NM_001999.4:c.5800+316C>T MANE Select	NP_001990.2:n.5800+316C>T