Canonical Allele Identifier: CA803633481

Gene: FBN2

Linked Data

• dbSNP Id: rs1399516833
• gnomAD v3: 5-128330832-G-A
• gnomAD v4: 5-128330832-G-A
• MyVariant Identifiers: chr5:g.127666524G>A (hg19) ; chr5:g.128330832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330832G>A , CM000667.2:g.128330832G>A	GRCh38
NC_000005.9:g.127666524G>A , CM000667.1:g.127666524G>A	GRCh37
NC_000005.8:g.127694423G>A	NCBI36
NG_008750.1:g.212212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1007-137C>T
ENST00000703785.1:n.1088-137C>T
ENST00000262464.9:c.4223-137C>T MANE Select	ENSP00000262464.4:n.4223-137C>T
ENST00000262464.8:c.4223-137C>T	ENSP00000262464.4:n.4223-137C>T
ENST00000507835.5:c.773-137C>T	ENSP00000426839.1:n.773-137C>T
ENST00000508053.5:c.4223-137C>T	ENSP00000424571.1:n.4223-137C>T
ENST00000508989.5:c.4124-137C>T	ENSP00000425596.1:n.4124-137C>T
ENST00000619499.4:c.4220-137C>T	ENSP00000482132.1:n.4220-137C>T
NM_001999.3:c.4223-137C>T	NP_001990.2:n.4223-137C>T
XM_017009228.2:c.4070-137C>T	XP_016864717.1:n.4070-137C>T
NM_001999.4:c.4223-137C>T MANE Select	NP_001990.2:n.4223-137C>T