Canonical Allele Identifier: CA127014877
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945156
ClinVar RCV Id: RCV001215726
dbSNP Id: rs914081385

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338014G>A , CM000667.2:g.128338014G>A GRCh38
NC_000005.9:g.127673706G>A , CM000667.1:g.127673706G>A GRCh37
NC_000005.8:g.127701605G>A NCBI36
NG_008750.1:g.205030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.365C>T
ENST00000703785.1:n.446C>T
ENST00000262464.9:c.3581C>T MANE Select ENSP00000262464.4:p.Ser1194Phe
ENST00000262464.8:c.3581C>T ENSP00000262464.4:p.Ser1194Phe
ENST00000507835.5:c.131C>T ENSP00000426839.1:p.Ser44Phe
ENST00000508053.5:c.3581C>T ENSP00000424571.1:p.Ser1194Phe
ENST00000508989.5:c.3482C>T ENSP00000425596.1:p.Ser1161Phe
ENST00000619499.4:c.3578C>T ENSP00000482132.1:p.Ser1193Phe
NM_001999.3:c.3581C>T NP_001990.2:p.Ser1194Phe
XM_017009228.2:c.3428C>T XP_016864717.1:p.Ser1143Phe
NM_001999.4:c.3581C>T MANE Select NP_001990.2:p.Ser1194Phe