Canonical Allele Identifier: CA126982911

Gene: FBN2

Linked Data

• dbSNP Id: rs1056102817
• gnomAD v4: 5-128304868-T-C
• MyVariant Identifiers: chr5:g.127640560T>C (hg19) ; chr5:g.128304868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128304868T>C , CM000667.2:g.128304868T>C	GRCh38
NC_000005.9:g.127640560T>C , CM000667.1:g.127640560T>C	GRCh37
NC_000005.8:g.127668459T>C	NCBI36
NG_008750.1:g.238176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.2584+89A>G
ENST00000703785.1:n.2503+89A>G
ENST00000262464.9:c.5800+89A>G MANE Select	ENSP00000262464.4:n.5800+89A>G
ENST00000262464.8:c.5800+89A>G	ENSP00000262464.4:n.5800+89A>G
ENST00000508053.5:c.5800+89A>G	ENSP00000424571.1:n.5800+89A>G
ENST00000619499.4:c.5797+89A>G	ENSP00000482132.1:n.5797+89A>G
NM_001999.3:c.5800+89A>G	NP_001990.2:n.5800+89A>G
XM_017009228.2:c.5647+89A>G	XP_016864717.1:n.5647+89A>G
NM_001999.4:c.5800+89A>G MANE Select	NP_001990.2:n.5800+89A>G