Canonical Allele Identifier: CA803636550

Gene: FBN2

Linked Data

• dbSNP Id: rs1286646726
• MyVariant Identifiers: chr5:g.127670853G>A (hg19) ; chr5:g.128335161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335161G>A , CM000667.2:g.128335161G>A	GRCh38
NC_000005.9:g.127670853G>A , CM000667.1:g.127670853G>A	GRCh37
NC_000005.8:g.127698752G>A	NCBI36
NG_008750.1:g.207883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.757+9C>T
ENST00000703785.1:n.838+9C>T
ENST00000262464.9:c.3973+9C>T MANE Select	ENSP00000262464.4:n.3973+9C>T
ENST00000262464.8:c.3973+9C>T	ENSP00000262464.4:n.3973+9C>T
ENST00000507835.5:c.523+9C>T	ENSP00000426839.1:n.523+9C>T
ENST00000508053.5:c.3973+9C>T	ENSP00000424571.1:n.3973+9C>T
ENST00000508989.5:c.3874+9C>T	ENSP00000425596.1:n.3874+9C>T
ENST00000619499.4:c.3970+9C>T	ENSP00000482132.1:n.3970+9C>T
NM_001999.3:c.3973+9C>T	NP_001990.2:n.3973+9C>T
XM_017009228.2:c.3820+9C>T	XP_016864717.1:n.3820+9C>T
NM_001999.4:c.3973+9C>T MANE Select	NP_001990.2:n.3973+9C>T