Canonical Allele Identifier: CA3395126

Gene: FBN2

Linked Data

• dbSNP Id: rs764233632
• ExAC: 5:127671106 T / A
• gnomAD v2: 5-127671106-T-A
• gnomAD v3: 5-128335414-T-A
• gnomAD v4: 5-128335414-T-A
• MyVariant Identifiers: chr5:g.127671106T>A (hg19) ; chr5:g.128335414T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335414T>A , CM000667.2:g.128335414T>A	GRCh38
NC_000005.9:g.127671106T>A , CM000667.1:g.127671106T>A	GRCh37
NC_000005.8:g.127699005T>A	NCBI36
NG_008750.1:g.207630A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.631+41A>T
ENST00000703785.1:n.712+41A>T
ENST00000262464.9:c.3847+41A>T MANE Select	ENSP00000262464.4:n.3847+41A>T
ENST00000262464.8:c.3847+41A>T	ENSP00000262464.4:n.3847+41A>T
ENST00000507835.5:c.397+41A>T	ENSP00000426839.1:n.397+41A>T
ENST00000508053.5:c.3847+41A>T	ENSP00000424571.1:n.3847+41A>T
ENST00000508989.5:c.3748+41A>T	ENSP00000425596.1:n.3748+41A>T
ENST00000619499.4:c.3844+41A>T	ENSP00000482132.1:n.3844+41A>T
NM_001999.3:c.3847+41A>T	NP_001990.2:n.3847+41A>T
XM_017009228.2:c.3694+41A>T	XP_016864717.1:n.3694+41A>T
NM_001999.4:c.3847+41A>T MANE Select	NP_001990.2:n.3847+41A>T