Canonical Allele Identifier: CA127008412

Gene: FBN2

Linked Data

• ClinVar Variation Id: 2897277
• ClinVar RCV Id: RCV003642010
• dbSNP Id: rs955699115
• gnomAD v4: 5-128335163-T-C
• MyVariant Identifiers: chr5:g.127670855T>C (hg19) ; chr5:g.128335163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128335163T>C , CM000667.2:g.128335163T>C	GRCh38
NC_000005.9:g.127670855T>C , CM000667.1:g.127670855T>C	GRCh37
NC_000005.8:g.127698754T>C	NCBI36
NG_008750.1:g.207881A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.757+7A>G
ENST00000703785.1:n.838+7A>G
ENST00000262464.9:c.3973+7A>G MANE Select	ENSP00000262464.4:n.3973+7A>G
ENST00000262464.8:c.3973+7A>G	ENSP00000262464.4:n.3973+7A>G
ENST00000507835.5:c.523+7A>G	ENSP00000426839.1:n.523+7A>G
ENST00000508053.5:c.3973+7A>G	ENSP00000424571.1:n.3973+7A>G
ENST00000508989.5:c.3874+7A>G	ENSP00000425596.1:n.3874+7A>G
ENST00000619499.4:c.3970+7A>G	ENSP00000482132.1:n.3970+7A>G
NM_001999.3:c.3973+7A>G	NP_001990.2:n.3973+7A>G
XM_017009228.2:c.3820+7A>G	XP_016864717.1:n.3820+7A>G
NM_001999.4:c.3973+7A>G MANE Select	NP_001990.2:n.3973+7A>G