Canonical Allele Identifier: CA360759557
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 519859
ClinVar RCV Id: RCV002313340
dbSNP Id: rs1554123064

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