Canonical Allele Identifier: CA127006990

Gene: FBN2

Linked Data

• dbSNP Id: rs868802211
• gnomAD v3: 5-128332973-G-A
• gnomAD v4: 5-128332973-G-A
• MyVariant Identifiers: chr5:g.127668665G>A (hg19) ; chr5:g.128332973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332973G>A , CM000667.2:g.128332973G>A	GRCh38
NC_000005.9:g.127668665G>A , CM000667.1:g.127668665G>A	GRCh37
NC_000005.8:g.127696564G>A	NCBI36
NG_008750.1:g.210071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.945C>T
ENST00000703785.1:n.1026C>T
ENST00000262464.9:c.4161C>T MANE Select	ENSP00000262464.4:p.Ile1387=
ENST00000262464.8:c.4161C>T	ENSP00000262464.4:p.Ile1387=
ENST00000507835.5:c.711C>T	ENSP00000426839.1:p.Ile237=
ENST00000508053.5:c.4161C>T	ENSP00000424571.1:p.Ile1387=
ENST00000508989.5:c.4062C>T	ENSP00000425596.1:p.Ile1354=
ENST00000619499.4:c.4158C>T	ENSP00000482132.1:p.Ile1386=
NM_001999.3:c.4161C>T	NP_001990.2:p.Ile1387=
XM_017009228.2:c.4008C>T	XP_016864717.1:p.Ile1336=
NM_001999.4:c.4161C>T MANE Select	NP_001990.2:p.Ile1387=