Canonical Allele Identifier: CA562717645

Gene: FBN2

Linked Data

• dbSNP Id: rs763157469
• gnomAD v2: 5-127692955-G-C
• gnomAD v4: 5-128357263-G-C
• MyVariant Identifiers: chr5:g.127692955G>C (hg19) ; chr5:g.128357263G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357263G>C , CM000667.2:g.128357263G>C	GRCh38
NC_000005.9:g.127692955G>C , CM000667.1:g.127692955G>C	GRCh37
NC_000005.8:g.127720854G>C	NCBI36
NG_008750.1:g.185781C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2674+13C>G MANE Select	ENSP00000262464.4:n.2674+13C>G
ENST00000262464.8:c.2674+13C>G	ENSP00000262464.4:n.2674+13C>G
ENST00000508053.5:c.2674+13C>G	ENSP00000424571.1:n.2674+13C>G
ENST00000508989.5:c.2575+13C>G	ENSP00000425596.1:n.2575+13C>G
ENST00000619499.4:c.2671+13C>G	ENSP00000482132.1:n.2671+13C>G
NM_001999.3:c.2674+13C>G	NP_001990.2:n.2674+13C>G
XM_017009228.2:c.2521+13C>G	XP_016864717.1:n.2521+13C>G
NM_001999.4:c.2674+13C>G MANE Select	NP_001990.2:n.2674+13C>G