Canonical Allele Identifier: CA323218

Gene: FBN2

Linked Data

• ClinVar Variation Id: 213410
• ClinVar RCV Id: RCV000198674 ; RCV003765247
• dbSNP Id: rs863223607
• MyVariant Identifiers: chr5:g.127666349T>G (hg19) ; chr5:g.128330657T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128330657T>G , CM000667.2:g.128330657T>G	GRCh38
NC_000005.9:g.127666349T>G , CM000667.1:g.127666349T>G	GRCh37
NC_000005.8:g.127694248T>G	NCBI36
NG_008750.1:g.212387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1045A>C
ENST00000703785.1:n.1126A>C
ENST00000262464.9:c.4261A>C MANE Select	ENSP00000262464.4:p.Ile1421Leu
ENST00000262464.8:c.4261A>C	ENSP00000262464.4:p.Ile1421Leu
ENST00000507835.5:c.811A>C	ENSP00000426839.1:p.Ile271Leu
ENST00000508053.5:c.4261A>C	ENSP00000424571.1:p.Ile1421Leu
ENST00000508989.5:c.4162A>C	ENSP00000425596.1:p.Ile1388Leu
ENST00000619499.4:c.4258A>C	ENSP00000482132.1:p.Ile1420Leu
NM_001999.3:c.4261A>C	NP_001990.2:p.Ile1421Leu
XM_017009228.2:c.4108A>C	XP_016864717.1:p.Ile1370Leu
NM_001999.4:c.4261A>C MANE Select	NP_001990.2:p.Ile1421Leu