Canonical Allele Identifier: CA360757369

Gene: FBN2

Linked Data

• gnomAD v4: 5-128335207-A-C
• MyVariant Identifiers: chr5:g.127670899A>C (hg19) ; chr5:g.128335207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335207A>C , CM000667.2:g.128335207A>C	GRCh38
NC_000005.9:g.127670899A>C , CM000667.1:g.127670899A>C	GRCh37
NC_000005.8:g.127698798A>C	NCBI36
NG_008750.1:g.207837T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.720T>G
ENST00000703785.1:n.801T>G
ENST00000262464.9:c.3936T>G MANE Select	ENSP00000262464.4:p.Asp1312Glu
ENST00000262464.8:c.3936T>G	ENSP00000262464.4:p.Asp1312Glu
ENST00000507835.5:c.486T>G	ENSP00000426839.1:p.Asp162Glu
ENST00000508053.5:c.3936T>G	ENSP00000424571.1:p.Asp1312Glu
ENST00000508989.5:c.3837T>G	ENSP00000425596.1:p.Asp1279Glu
ENST00000619499.4:c.3933T>G	ENSP00000482132.1:p.Asp1311Glu
NM_001999.3:c.3936T>G	NP_001990.2:p.Asp1312Glu
XM_017009228.2:c.3783T>G	XP_016864717.1:p.Asp1261Glu
NM_001999.4:c.3936T>G MANE Select	NP_001990.2:p.Asp1312Glu