Canonical Allele Identifier: CA446310631

Gene: FBN2

Linked Data

• gnomAD v4: 5-128338061-C-T
• MyVariant Identifiers: chr5:g.127673753C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338061C>T , CM000667.2:g.128338061C>T	GRCh38
NC_000005.9:g.127673753C>T , CM000667.1:g.127673753C>T	GRCh37
NC_000005.8:g.127701652C>T	NCBI36
NG_008750.1:g.204983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.318G>A
ENST00000703785.1:n.399G>A
ENST00000262464.9:c.3534G>A MANE Select	ENSP00000262464.4:p.Glu1178=
ENST00000262464.8:c.3534G>A	ENSP00000262464.4:p.Glu1178=
ENST00000507835.5:c.84G>A	ENSP00000426839.1:p.Glu28=
ENST00000508053.5:c.3534G>A	ENSP00000424571.1:p.Glu1178=
ENST00000508989.5:c.3435G>A	ENSP00000425596.1:p.Glu1145=
ENST00000619499.4:c.3531G>A	ENSP00000482132.1:p.Glu1177=
NM_001999.3:c.3534G>A	NP_001990.2:p.Glu1178=
XM_017009228.2:c.3381G>A	XP_016864717.1:p.Glu1127=
NM_001999.4:c.3534G>A MANE Select	NP_001990.2:p.Glu1178=