Canonical Allele Identifier: CA360747829
Gene: FBN2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.127597546G>C (hg19) chr5:g.128261854G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261854G>C , CM000667.2:g.128261854G>C GRCh38
NC_000005.9:g.127597546G>C , CM000667.1:g.127597546G>C GRCh37
NC_000005.8:g.127625445G>C NCBI36
NG_008750.1:g.281190C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8246C>G MANE Select ENSP00000262464.4:p.Thr2749Arg
ENST00000262464.8:c.8246C>G ENSP00000262464.4:p.Thr2749Arg
ENST00000508053.5:c.8246C>G ENSP00000424571.1:p.Thr2749Arg
ENST00000619499.4:c.8243C>G ENSP00000482132.1:p.Thr2748Arg
NM_001999.3:c.8246C>G NP_001990.2:p.Thr2749Arg
XM_017009228.2:c.8093C>G XP_016864717.1:p.Thr2698Arg
NM_001999.4:c.8246C>G MANE Select NP_001990.2:p.Thr2749Arg
Search 100 bp 5'
Search 100 bp 3'