Canonical Allele Identifier: CA446306382
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127640722A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128305030A>C , CM000667.2:g.128305030A>C GRCh38
NC_000005.9:g.127640722A>C , CM000667.1:g.127640722A>C GRCh37
NC_000005.8:g.127668621A>C NCBI36
NG_008750.1:g.238014T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2511T>G
ENST00000703785.1:n.2430T>G
ENST00000262464.9:c.5727T>G MANE Select ENSP00000262464.4:p.Val1909=
ENST00000262464.8:c.5727T>G ENSP00000262464.4:p.Val1909=
ENST00000508053.5:c.5727T>G ENSP00000424571.1:p.Val1909=
ENST00000619499.4:c.5724T>G ENSP00000482132.1:p.Val1908=
NM_001999.3:c.5727T>G NP_001990.2:p.Val1909=
XM_017009228.2:c.5574T>G XP_016864717.1:p.Val1858=
NM_001999.4:c.5727T>G MANE Select NP_001990.2:p.Val1909=