Canonical Allele Identifier: CA446310695

Gene: FBN2

Linked Data

• ClinVar Variation Id: 1096839
• ClinVar RCV Id: RCV001418197
• dbSNP Id: rs2126902161
• gnomAD v4: 5-128338094-G-C
• MyVariant Identifiers: chr5:g.127673786G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338094G>C , CM000667.2:g.128338094G>C	GRCh38
NC_000005.9:g.127673786G>C , CM000667.1:g.127673786G>C	GRCh37
NC_000005.8:g.127701685G>C	NCBI36
NG_008750.1:g.204950C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.285C>G
ENST00000703785.1:n.366C>G
ENST00000262464.9:c.3501C>G MANE Select	ENSP00000262464.4:p.Leu1167=
ENST00000262464.8:c.3501C>G	ENSP00000262464.4:p.Leu1167=
ENST00000507835.5:c.51C>G	ENSP00000426839.1:p.Leu17=
ENST00000508053.5:c.3501C>G	ENSP00000424571.1:p.Leu1167=
ENST00000508989.5:c.3402C>G	ENSP00000425596.1:p.Leu1134=
ENST00000619499.4:c.3498C>G	ENSP00000482132.1:p.Leu1166=
NM_001999.3:c.3501C>G	NP_001990.2:p.Leu1167=
XM_017009228.2:c.3348C>G	XP_016864717.1:p.Leu1116=
NM_001999.4:c.3501C>G MANE Select	NP_001990.2:p.Leu1167=