Canonical Allele Identifier: CA360767417

Gene: FBN2

Linked Data

• ClinVar Variation Id: 843604
• ClinVar RCV Id: RCV001046272
• dbSNP Id: rs1751526889
• MyVariant Identifiers: chr5:g.127693031C>G (hg19) ; chr5:g.128357339C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128357339C>G , CM000667.2:g.128357339C>G	GRCh38
NC_000005.9:g.127693031C>G , CM000667.1:g.127693031C>G	GRCh37
NC_000005.8:g.127720930C>G	NCBI36
NG_008750.1:g.185705G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262464.9:c.2611G>C MANE Select	ENSP00000262464.4:p.Gly871Arg
ENST00000262464.8:c.2611G>C	ENSP00000262464.4:p.Gly871Arg
ENST00000508053.5:c.2611G>C	ENSP00000424571.1:p.Gly871Arg
ENST00000508989.5:c.2512G>C	ENSP00000425596.1:p.Gly838Arg
ENST00000619499.4:c.2608G>C	ENSP00000482132.1:p.Gly870Arg
NM_001999.3:c.2611G>C	NP_001990.2:p.Gly871Arg
XM_017009228.2:c.2458G>C	XP_016864717.1:p.Gly820Arg
NM_001999.4:c.2611G>C MANE Select	NP_001990.2:p.Gly871Arg