Canonical Allele Identifier: CA126994913

Gene: FBN2

Linked Data

• dbSNP Id: rs1047930335
• gnomAD v3: 5-128317258-G-A
• gnomAD v4: 5-128317258-G-A
• MyVariant Identifiers: chr5:g.127652950G>A (hg19) ; chr5:g.128317258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128317258G>A , CM000667.2:g.128317258G>A	GRCh38
NC_000005.9:g.127652950G>A , CM000667.1:g.127652950G>A	GRCh37
NC_000005.8:g.127680849G>A	NCBI36
NG_008750.1:g.225786C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.1501+891C>T
ENST00000703785.1:n.1582+891C>T
ENST00000262464.9:c.4717+891C>T MANE Select	ENSP00000262464.4:n.4717+891C>T
ENST00000262464.8:c.4717+891C>T	ENSP00000262464.4:n.4717+891C>T
ENST00000508053.5:c.4717+891C>T	ENSP00000424571.1:n.4717+891C>T
ENST00000619499.4:c.4714+891C>T	ENSP00000482132.1:n.4714+891C>T
NM_001999.3:c.4717+891C>T	NP_001990.2:n.4717+891C>T
XM_017009228.2:c.4564+891C>T	XP_016864717.1:n.4564+891C>T
NM_001999.4:c.4717+891C>T MANE Select	NP_001990.2:n.4717+891C>T