Canonical Allele Identifier: CA446309250

Gene: FBN2

Linked Data

• gnomAD v4: 5-128330655-G-A
• MyVariant Identifiers: chr5:g.127666347G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330655G>A , CM000667.2:g.128330655G>A	GRCh38
NC_000005.9:g.127666347G>A , CM000667.1:g.127666347G>A	GRCh37
NC_000005.8:g.127694246G>A	NCBI36
NG_008750.1:g.212389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1047C>T
ENST00000703785.1:n.1128C>T
ENST00000262464.9:c.4263C>T MANE Select	ENSP00000262464.4:p.Ile1421=
ENST00000262464.8:c.4263C>T	ENSP00000262464.4:p.Ile1421=
ENST00000507835.5:c.813C>T	ENSP00000426839.1:p.Ile271=
ENST00000508053.5:c.4263C>T	ENSP00000424571.1:p.Ile1421=
ENST00000508989.5:c.4164C>T	ENSP00000425596.1:p.Ile1388=
ENST00000619499.4:c.4260C>T	ENSP00000482132.1:p.Ile1420=
NM_001999.3:c.4263C>T	NP_001990.2:p.Ile1421=
XM_017009228.2:c.4110C>T	XP_016864717.1:p.Ile1370=
NM_001999.4:c.4263C>T MANE Select	NP_001990.2:p.Ile1421=