Canonical Allele Identifier: CA127006853
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1019020945

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128332859G>C , CM000667.2:g.128332859G>C GRCh38
NC_000005.9:g.127668551G>C , CM000667.1:g.127668551G>C GRCh37
NC_000005.8:g.127696450G>C NCBI36
NG_008750.1:g.210185C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1006+53C>G
ENST00000703785.1:n.1087+53C>G
ENST00000262464.9:c.4222+53C>G MANE Select ENSP00000262464.4:n.4222+53C>G
ENST00000262464.8:c.4222+53C>G ENSP00000262464.4:n.4222+53C>G
ENST00000507835.5:c.772+53C>G ENSP00000426839.1:n.772+53C>G
ENST00000508053.5:c.4222+53C>G ENSP00000424571.1:n.4222+53C>G
ENST00000508989.5:c.4123+53C>G ENSP00000425596.1:n.4123+53C>G
ENST00000619499.4:c.4219+53C>G ENSP00000482132.1:n.4219+53C>G
NM_001999.3:c.4222+53C>G NP_001990.2:n.4222+53C>G
XM_017009228.2:c.4069+53C>G XP_016864717.1:n.4069+53C>G
NM_001999.4:c.4222+53C>G MANE Select NP_001990.2:n.4222+53C>G