Canonical Allele Identifier: CA360759397
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338071A>C , CM000667.2:g.128338071A>C GRCh38
NC_000005.9:g.127673763A>C , CM000667.1:g.127673763A>C GRCh37
NC_000005.8:g.127701662A>C NCBI36
NG_008750.1:g.204973T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.308T>G
ENST00000703785.1:n.389T>G
ENST00000262464.9:c.3524T>G MANE Select ENSP00000262464.4:p.Val1175Gly
ENST00000262464.8:c.3524T>G ENSP00000262464.4:p.Val1175Gly
ENST00000507835.5:c.74T>G ENSP00000426839.1:p.Val25Gly
ENST00000508053.5:c.3524T>G ENSP00000424571.1:p.Val1175Gly
ENST00000508989.5:c.3425T>G ENSP00000425596.1:p.Val1142Gly
ENST00000619499.4:c.3521T>G ENSP00000482132.1:p.Val1174Gly
NM_001999.3:c.3524T>G NP_001990.2:p.Val1175Gly
XM_017009228.2:c.3371T>G XP_016864717.1:p.Val1124Gly
NM_001999.4:c.3524T>G MANE Select NP_001990.2:p.Val1175Gly