Canonical Allele Identifier: CA3395204
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 451979
dbSNP Id: rs771385579

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338061C>G , CM000667.2:g.128338061C>G GRCh38
NC_000005.9:g.127673753C>G , CM000667.1:g.127673753C>G GRCh37
NC_000005.8:g.127701652C>G NCBI36
NG_008750.1:g.204983G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.318G>C
ENST00000703785.1:n.399G>C
ENST00000262464.9:c.3534G>C MANE Select ENSP00000262464.4:p.Glu1178Asp
ENST00000262464.8:c.3534G>C ENSP00000262464.4:p.Glu1178Asp
ENST00000507835.5:c.84G>C ENSP00000426839.1:p.Glu28Asp
ENST00000508053.5:c.3534G>C ENSP00000424571.1:p.Glu1178Asp
ENST00000508989.5:c.3435G>C ENSP00000425596.1:p.Glu1145Asp
ENST00000619499.4:c.3531G>C ENSP00000482132.1:p.Glu1177Asp
NM_001999.3:c.3534G>C NP_001990.2:p.Glu1178Asp
XM_017009228.2:c.3381G>C XP_016864717.1:p.Glu1127Asp
NM_001999.4:c.3534G>C MANE Select NP_001990.2:p.Glu1178Asp