Canonical Allele Identifier: CA446309239
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127636561G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128300869G>A , CM000667.2:g.128300869G>A GRCh38
NC_000005.9:g.127636561G>A , CM000667.1:g.127636561G>A GRCh37
NC_000005.8:g.127664460G>A NCBI36
NG_008750.1:g.242175C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.2898C>T
ENST00000703785.1:n.2817C>T
ENST00000262464.9:c.6114C>T MANE Select ENSP00000262464.4:p.Ser2038=
ENST00000262464.8:c.6114C>T ENSP00000262464.4:p.Ser2038=
ENST00000508053.5:c.6114C>T ENSP00000424571.1:p.Ser2038=
ENST00000619499.4:c.6111C>T ENSP00000482132.1:p.Ser2037=
NM_001999.3:c.6114C>T NP_001990.2:p.Ser2038=
XM_017009228.2:c.5961C>T XP_016864717.1:p.Ser1987=
NM_001999.4:c.6114C>T MANE Select NP_001990.2:p.Ser2038=