Canonical Allele Identifier: CA360762654

Gene: FBN2

Linked Data

• gnomAD v4: 5-128537477-G-T
• MyVariant Identifiers: chr5:g.127873170G>T (hg19) ; chr5:g.128537477G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128537477G>T , CM000667.2:g.128537477G>T	GRCh38
NC_000005.9:g.127873170G>T , CM000667.1:g.127873170G>T	GRCh37
NC_000005.8:g.127901069G>T	NCBI36
NG_008750.1:g.5566C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.127C>A	ENSP00000424571.2:p.Pro43Thr
ENST00000262464.9:c.127C>A MANE Select	ENSP00000262464.4:p.Pro43Thr
ENST00000262464.8:c.127C>A	ENSP00000262464.4:p.Pro43Thr
ENST00000502468.5:c.127C>A	ENSP00000424753.1:p.Pro43Thr
ENST00000508053.5:c.127C>A	ENSP00000424571.1:p.Pro43Thr
ENST00000508989.5:c.127C>A	ENSP00000425596.1:p.Pro43Thr
ENST00000514742.1:n.747C>A
ENST00000619499.4:c.127C>A	ENSP00000482132.1:p.Pro43Thr
ENST00000620257.1:c.127C>A	ENSP00000479157.1:p.Pro43Thr
NM_001999.3:c.127C>A	NP_001990.2:p.Pro43Thr
XM_017009228.2:c.127C>A	XP_016864717.1:p.Pro43Thr
NM_001999.4:c.127C>A MANE Select	NP_001990.2:p.Pro43Thr