Canonical Allele Identifier: CA3394863

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519865
• ClinVar RCV Id: RCV002223886 ; RCV002313346 ; RCV003767805
• dbSNP Id: rs143195229
• ExAC: 5:127648448 C / G
• gnomAD v2: 5-127648448-C-G
• gnomAD v3: 5-128312756-C-G
• gnomAD v4: 5-128312756-C-G
• MyVariant Identifiers: chr5:g.127648448C>G (hg19) ; chr5:g.128312756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128312756C>G , CM000667.2:g.128312756C>G	GRCh38
NC_000005.9:g.127648448C>G , CM000667.1:g.127648448C>G	GRCh37
NC_000005.8:g.127676347C>G	NCBI36
NG_008750.1:g.230288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.1541G>C
ENST00000703785.1:n.1583-803G>C
ENST00000262464.9:c.4757G>C MANE Select	ENSP00000262464.4:p.Arg1586Pro
ENST00000262464.8:c.4757G>C	ENSP00000262464.4:p.Arg1586Pro
ENST00000508053.5:c.4757G>C	ENSP00000424571.1:p.Arg1586Pro
ENST00000619499.4:c.4754G>C	ENSP00000482132.1:p.Arg1585Pro
NM_001999.3:c.4757G>C	NP_001990.2:p.Arg1586Pro
XM_017009228.2:c.4604G>C	XP_016864717.1:p.Arg1535Pro
NM_001999.4:c.4757G>C MANE Select	NP_001990.2:p.Arg1586Pro