Canonical Allele Identifier: CA360757341
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128335196G>C , CM000667.2:g.128335196G>C GRCh38
NC_000005.9:g.127670888G>C , CM000667.1:g.127670888G>C GRCh37
NC_000005.8:g.127698787G>C NCBI36
NG_008750.1:g.207848C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.731C>G
ENST00000703785.1:n.812C>G
ENST00000262464.9:c.3947C>G MANE Select ENSP00000262464.4:p.Ala1316Gly
ENST00000262464.8:c.3947C>G ENSP00000262464.4:p.Ala1316Gly
ENST00000507835.5:c.497C>G ENSP00000426839.1:p.Ala166Gly
ENST00000508053.5:c.3947C>G ENSP00000424571.1:p.Ala1316Gly
ENST00000508989.5:c.3848C>G ENSP00000425596.1:p.Ala1283Gly
ENST00000619499.4:c.3944C>G ENSP00000482132.1:p.Ala1315Gly
NM_001999.3:c.3947C>G NP_001990.2:p.Ala1316Gly
XM_017009228.2:c.3794C>G XP_016864717.1:p.Ala1265Gly
NM_001999.4:c.3947C>G MANE Select NP_001990.2:p.Ala1316Gly