Canonical Allele Identifier: CA562714840

Gene: FBN2

Linked Data

• dbSNP Id: rs1359941747
• gnomAD v2: 5-127668566-T-A
• gnomAD v4: 5-128332874-T-A
• MyVariant Identifiers: chr5:g.127668566T>A (hg19) ; chr5:g.128332874T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128332874T>A , CM000667.2:g.128332874T>A	GRCh38
NC_000005.9:g.127668566T>A , CM000667.1:g.127668566T>A	GRCh37
NC_000005.8:g.127696465T>A	NCBI36
NG_008750.1:g.210170A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1006+38A>T
ENST00000703785.1:n.1087+38A>T
ENST00000262464.9:c.4222+38A>T MANE Select	ENSP00000262464.4:n.4222+38A>T
ENST00000262464.8:c.4222+38A>T	ENSP00000262464.4:n.4222+38A>T
ENST00000507835.5:c.772+38A>T	ENSP00000426839.1:n.772+38A>T
ENST00000508053.5:c.4222+38A>T	ENSP00000424571.1:n.4222+38A>T
ENST00000508989.5:c.4123+38A>T	ENSP00000425596.1:n.4123+38A>T
ENST00000619499.4:c.4219+38A>T	ENSP00000482132.1:n.4219+38A>T
NM_001999.3:c.4222+38A>T	NP_001990.2:n.4222+38A>T
XM_017009228.2:c.4069+38A>T	XP_016864717.1:n.4069+38A>T
NM_001999.4:c.4222+38A>T MANE Select	NP_001990.2:n.4222+38A>T