Canonical Allele Identifier: CA360747874
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127597550C>G (hg19) chr5:g.128261858C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261858C>G , CM000667.2:g.128261858C>G GRCh38
NC_000005.9:g.127597550C>G , CM000667.1:g.127597550C>G GRCh37
NC_000005.8:g.127625449C>G NCBI36
NG_008750.1:g.281186G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8242G>C MANE Select ENSP00000262464.4:p.Asp2748His
ENST00000262464.8:c.8242G>C ENSP00000262464.4:p.Asp2748His
ENST00000508053.5:c.8242G>C ENSP00000424571.1:p.Asp2748His
ENST00000619499.4:c.8239G>C ENSP00000482132.1:p.Asp2747His
NM_001999.3:c.8242G>C NP_001990.2:p.Asp2748His
XM_017009228.2:c.8089G>C XP_016864717.1:p.Asp2697His
NM_001999.4:c.8242G>C MANE Select NP_001990.2:p.Asp2748His
Search 100 bp 5'
Search 100 bp 3'