Canonical Allele Identifier: CA562714446
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs1419941745

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128330433T>C , CM000667.2:g.128330433T>C GRCh38
NC_000005.9:g.127666125T>C , CM000667.1:g.127666125T>C GRCh37
NC_000005.8:g.127694024T>C NCBI36
NG_008750.1:g.212611A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.1129+140A>G
ENST00000703785.1:n.1210+140A>G
ENST00000262464.9:c.4345+140A>G MANE Select ENSP00000262464.4:n.4345+140A>G
ENST00000262464.8:c.4345+140A>G ENSP00000262464.4:n.4345+140A>G
ENST00000507835.5:c.895+140A>G ENSP00000426839.1:n.895+140A>G
ENST00000508053.5:c.4345+140A>G ENSP00000424571.1:n.4345+140A>G
ENST00000508989.5:c.4246+140A>G ENSP00000425596.1:n.4246+140A>G
ENST00000619499.4:c.4342+140A>G ENSP00000482132.1:n.4342+140A>G
NM_001999.3:c.4345+140A>G NP_001990.2:n.4345+140A>G
XM_017009228.2:c.4192+140A>G XP_016864717.1:n.4192+140A>G
NM_001999.4:c.4345+140A>G MANE Select NP_001990.2:n.4345+140A>G