Canonical Allele Identifier: CA360740062
Gene: FBN2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305061A>C , CM000667.2:g.128305061A>C GRCh38
NC_000005.9:g.127640753A>C , CM000667.1:g.127640753A>C GRCh37
NC_000005.8:g.127668652A>C NCBI36
NG_008750.1:g.237983T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2480T>G
ENST00000703785.1:n.2399T>G
ENST00000262464.9:c.5696T>G MANE Select ENSP00000262464.4:p.Ile1899Ser
ENST00000262464.8:c.5696T>G ENSP00000262464.4:p.Ile1899Ser
ENST00000508053.5:c.5696T>G ENSP00000424571.1:p.Ile1899Ser
ENST00000619499.4:c.5693T>G ENSP00000482132.1:p.Ile1898Ser
NM_001999.3:c.5696T>G NP_001990.2:p.Ile1899Ser
XM_017009228.2:c.5543T>G XP_016864717.1:p.Ile1848Ser
NM_001999.4:c.5696T>G MANE Select NP_001990.2:p.Ile1899Ser