Canonical Allele Identifier: CA650270156

Gene: FBN2

Linked Data

• dbSNP Id: rs1422884705
• gnomAD v4: 5-128395092-T-C
• COSMIC: COSN24407301
• MyVariant Identifiers: chr5:g.127730785T>C (hg19) ; chr5:g.128395092T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128395092T>C , CM000667.2:g.128395092T>C	GRCh38
NC_000005.9:g.127730785T>C , CM000667.1:g.127730785T>C	GRCh37
NC_000005.8:g.127758684T>C	NCBI36
NG_008750.1:g.147951A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703787.1:n.938+30A>G
ENST00000262464.9:c.1231+30A>G MANE Select	ENSP00000262464.4:n.1231+30A>G
ENST00000262464.8:c.1231+30A>G	ENSP00000262464.4:n.1231+30A>G
ENST00000508053.5:c.1231+30A>G	ENSP00000424571.1:n.1231+30A>G
ENST00000508989.5:c.1132+30A>G	ENSP00000425596.1:n.1132+30A>G
ENST00000619499.4:c.1228+30A>G	ENSP00000482132.1:n.1228+30A>G
NM_001999.3:c.1231+30A>G	NP_001990.2:n.1231+30A>G
XM_017009228.2:c.1079-1724A>G	XP_016864717.1:n.1079-1724A>G
NM_001999.4:c.1231+30A>G MANE Select	NP_001990.2:n.1231+30A>G