Canonical Allele Identifier: CA446305640
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127597440A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261748A>C , CM000667.2:g.128261748A>C GRCh38
NC_000005.9:g.127597440A>C , CM000667.1:g.127597440A>C GRCh37
NC_000005.8:g.127625339A>C NCBI36
NG_008750.1:g.281296T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8352T>G MANE Select ENSP00000262464.4:p.Pro2784=
ENST00000262464.8:c.8352T>G ENSP00000262464.4:p.Pro2784=
ENST00000508053.5:c.8352T>G ENSP00000424571.1:p.Pro2784=
ENST00000619499.4:c.8349T>G ENSP00000482132.1:p.Pro2783=
NM_001999.3:c.8352T>G NP_001990.2:p.Pro2784=
XM_017009228.2:c.8199T>G XP_016864717.1:p.Pro2733=
NM_001999.4:c.8352T>G MANE Select NP_001990.2:p.Pro2784=