Canonical Allele Identifier: CA562712443

Gene: FBN2

Linked Data

• dbSNP Id: rs750128656
• gnomAD v2: 5-127610215-C-A
• gnomAD v4: 5-128274523-C-A
• MyVariant Identifiers: chr5:g.127610215C>A (hg19) ; chr5:g.128274523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128274523C>A , CM000667.2:g.128274523C>A	GRCh38
NC_000005.9:g.127610215C>A , CM000667.1:g.127610215C>A	GRCh37
NC_000005.8:g.127638114C>A	NCBI36
NG_008750.1:g.268521G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.4495+44G>T
ENST00000262464.9:c.7711+44G>T MANE Select	ENSP00000262464.4:n.7711+44G>T
ENST00000262464.8:c.7711+44G>T	ENSP00000262464.4:n.7711+44G>T
ENST00000508053.5:c.7711+44G>T	ENSP00000424571.1:n.7711+44G>T
ENST00000619499.4:c.7708+44G>T	ENSP00000482132.1:n.7708+44G>T
NM_001999.3:c.7711+44G>T	NP_001990.2:n.7711+44G>T
XM_017009228.2:c.7558+44G>T	XP_016864717.1:n.7558+44G>T
NM_001999.4:c.7711+44G>T MANE Select	NP_001990.2:n.7711+44G>T