Canonical Allele Identifier: CA127018046

Gene: FBN2

Linked Data

• dbSNP Id: rs562585175
• gnomAD v2: 5-127679885-G-C
• gnomAD v3: 5-128344193-G-C
• gnomAD v4: 5-128344193-G-C
• MyVariant Identifiers: chr5:g.127679885G>C (hg19) ; chr5:g.128344193G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128344193G>C , CM000667.2:g.128344193G>C	GRCh38
NC_000005.9:g.127679885G>C , CM000667.1:g.127679885G>C	GRCh37
NC_000005.8:g.127707784G>C	NCBI36
NG_008750.1:g.198851C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.3343+192C>G MANE Select	ENSP00000262464.4:n.3343+192C>G
ENST00000262464.8:c.3343+192C>G	ENSP00000262464.4:n.3343+192C>G
ENST00000508053.5:c.3343+192C>G	ENSP00000424571.1:n.3343+192C>G
ENST00000508989.5:c.3244+192C>G	ENSP00000425596.1:n.3244+192C>G
ENST00000619499.4:c.3340+192C>G	ENSP00000482132.1:n.3340+192C>G
NM_001999.3:c.3343+192C>G	NP_001990.2:n.3343+192C>G
XM_017009228.2:c.3190+192C>G	XP_016864717.1:n.3190+192C>G
NM_001999.4:c.3343+192C>G MANE Select	NP_001990.2:n.3343+192C>G