Canonical Allele Identifier: CA360759557

Gene: FBN2

Linked Data

• ClinVar Variation Id: 519859
• ClinVar RCV Id: RCV002313340
• dbSNP Id: rs1554123064
• MyVariant Identifiers: chr5:g.127673801A>C (hg19) ; chr5:g.128338109A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128338109A>C , CM000667.2:g.128338109A>C	GRCh38
NC_000005.9:g.127673801A>C , CM000667.1:g.127673801A>C	GRCh37
NC_000005.8:g.127701700A>C	NCBI36
NG_008750.1:g.204935T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000703783.1:n.270T>G
ENST00000703785.1:n.351T>G
ENST00000262464.9:c.3486T>G MANE Select	ENSP00000262464.4:p.Cys1162Trp
ENST00000262464.8:c.3486T>G	ENSP00000262464.4:p.Cys1162Trp
ENST00000507835.5:c.36T>G	ENSP00000426839.1:p.Cys12Trp
ENST00000508053.5:c.3486T>G	ENSP00000424571.1:p.Cys1162Trp
ENST00000508989.5:c.3387T>G	ENSP00000425596.1:p.Cys1129Trp
ENST00000619499.4:c.3483T>G	ENSP00000482132.1:p.Cys1161Trp
NM_001999.3:c.3486T>G	NP_001990.2:p.Cys1162Trp
XM_017009228.2:c.3333T>G	XP_016864717.1:p.Cys1111Trp
NM_001999.4:c.3486T>G MANE Select	NP_001990.2:p.Cys1162Trp