Canonical Allele Identifier: CA320216
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213255
dbSNP Id: rs145353444

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261861G>C , CM000667.2:g.128261861G>C GRCh38
NC_000005.9:g.127597553G>C , CM000667.1:g.127597553G>C GRCh37
NC_000005.8:g.127625452G>C NCBI36
NG_008750.1:g.281183C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8239C>G MANE Select ENSP00000262464.4:p.Leu2747Val
ENST00000262464.8:c.8239C>G ENSP00000262464.4:p.Leu2747Val
ENST00000508053.5:c.8239C>G ENSP00000424571.1:p.Leu2747Val
ENST00000619499.4:c.8236C>G ENSP00000482132.1:p.Leu2746Val
NM_001999.3:c.8239C>G NP_001990.2:p.Leu2747Val
XM_017009228.2:c.8086C>G XP_016864717.1:p.Leu2696Val
NM_001999.4:c.8239C>G MANE Select NP_001990.2:p.Leu2747Val