Canonical Allele Identifier: CA446309451

Gene: FBN2

Linked Data

• gnomAD v4: 5-128332940-G-A
• MyVariant Identifiers: chr5:g.127668632G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332940G>A , CM000667.2:g.128332940G>A	GRCh38
NC_000005.9:g.127668632G>A , CM000667.1:g.127668632G>A	GRCh37
NC_000005.8:g.127696531G>A	NCBI36
NG_008750.1:g.210104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.978C>T
ENST00000703785.1:n.1059C>T
ENST00000262464.9:c.4194C>T MANE Select	ENSP00000262464.4:p.Gly1398=
ENST00000262464.8:c.4194C>T	ENSP00000262464.4:p.Gly1398=
ENST00000507835.5:c.744C>T	ENSP00000426839.1:p.Gly248=
ENST00000508053.5:c.4194C>T	ENSP00000424571.1:p.Gly1398=
ENST00000508989.5:c.4095C>T	ENSP00000425596.1:p.Gly1365=
ENST00000619499.4:c.4191C>T	ENSP00000482132.1:p.Gly1397=
NM_001999.3:c.4194C>T	NP_001990.2:p.Gly1398=
XM_017009228.2:c.4041C>T	XP_016864717.1:p.Gly1347=
NM_001999.4:c.4194C>T MANE Select	NP_001990.2:p.Gly1398=