Canonical Allele Identifier: CA350049

Gene: FBN2

Linked Data

• ClinVar Variation Id: 220686
• ClinVar RCV Id: RCV000205963 ; RCV000612271 ; RCV003927877 ; RCV001812209
• dbSNP Id: rs371439173
• ExAC: 5:127638656 A / C
• gnomAD v2: 5-127638656-A-C
• gnomAD v3: 5-128302964-A-C
• gnomAD v4: 5-128302964-A-C
• MyVariant Identifiers: chr5:g.127638656A>C (hg19) ; chr5:g.128302964A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128302964A>C , CM000667.2:g.128302964A>C	GRCh38
NC_000005.9:g.127638656A>C , CM000667.1:g.127638656A>C	GRCh37
NC_000005.8:g.127666555A>C	NCBI36
NG_008750.1:g.240080T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.2701+9T>G
ENST00000703785.1:n.2620+9T>G
ENST00000262464.9:c.5917+9T>G MANE Select	ENSP00000262464.4:n.5917+9T>G
ENST00000262464.8:c.5917+9T>G	ENSP00000262464.4:n.5917+9T>G
ENST00000508053.5:c.5917+9T>G	ENSP00000424571.1:n.5917+9T>G
ENST00000619499.4:c.5914+9T>G	ENSP00000482132.1:n.5914+9T>G
NM_001999.3:c.5917+9T>G	NP_001990.2:n.5917+9T>G
XM_017009228.2:c.5764+9T>G	XP_016864717.1:n.5764+9T>G
NM_001999.4:c.5917+9T>G MANE Select	NP_001990.2:n.5917+9T>G