Canonical Allele Identifier: CA360747818
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127597544C>G (hg19) chr5:g.128261852C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261852C>G , CM000667.2:g.128261852C>G GRCh38
NC_000005.9:g.127597544C>G , CM000667.1:g.127597544C>G GRCh37
NC_000005.8:g.127625443C>G NCBI36
NG_008750.1:g.281192G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8248G>C MANE Select ENSP00000262464.4:p.Glu2750Gln
ENST00000262464.8:c.8248G>C ENSP00000262464.4:p.Glu2750Gln
ENST00000508053.5:c.8248G>C ENSP00000424571.1:p.Glu2750Gln
ENST00000619499.4:c.8245G>C ENSP00000482132.1:p.Glu2749Gln
NM_001999.3:c.8248G>C NP_001990.2:p.Glu2750Gln
XM_017009228.2:c.8095G>C XP_016864717.1:p.Glu2699Gln
NM_001999.4:c.8248G>C MANE Select NP_001990.2:p.Glu2750Gln
Search 100 bp 5'
Search 100 bp 3'