Canonical Allele Identifier: CA562724692

Gene: FBN2

Linked Data

• dbSNP Id: rs760802177
• gnomAD v2: 5-127800381-T-A
• gnomAD v4: 5-128464688-T-A
• MyVariant Identifiers: chr5:g.127800381T>A (hg19) ; chr5:g.128464688T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128464688T>A , CM000667.2:g.128464688T>A	GRCh38
NC_000005.9:g.127800381T>A , CM000667.1:g.127800381T>A	GRCh37
NC_000005.8:g.127828280T>A	NCBI36
NG_008750.1:g.78355A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000508053.6:c.826+36A>T	ENSP00000424571.2:n.826+36A>T
ENST00000703787.1:n.533+36A>T
ENST00000262464.9:c.826+36A>T MANE Select	ENSP00000262464.4:n.826+36A>T
ENST00000262464.8:c.826+36A>T	ENSP00000262464.4:n.826+36A>T
ENST00000502468.5:c.826+36A>T	ENSP00000424753.1:n.826+36A>T
ENST00000508053.5:c.826+36A>T	ENSP00000424571.1:n.826+36A>T
ENST00000508989.5:c.727+36A>T	ENSP00000425596.1:n.727+36A>T
ENST00000514742.1:n.1446+36A>T
ENST00000619499.4:c.823+36A>T	ENSP00000482132.1:n.823+36A>T
ENST00000620257.1:c.824+36A>T	ENSP00000479157.1:n.824+36A>T
NM_001999.3:c.826+36A>T	NP_001990.2:n.826+36A>T
XM_017009228.2:c.826+36A>T	XP_016864717.1:n.826+36A>T
NM_001999.4:c.826+36A>T MANE Select	NP_001990.2:n.826+36A>T