Canonical Allele Identifier: CA446305695
Gene: FBN2 HGNC NCBI

Linked Data

gnomAD v4: 5-128261862-T-C
MyVariant Identifiers: chr5:g.127597554T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261862T>C , CM000667.2:g.128261862T>C GRCh38
NC_000005.9:g.127597554T>C , CM000667.1:g.127597554T>C GRCh37
NC_000005.8:g.127625453T>C NCBI36
NG_008750.1:g.281182A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8238A>G MANE Select ENSP00000262464.4:p.Ser2746=
ENST00000262464.8:c.8238A>G ENSP00000262464.4:p.Ser2746=
ENST00000508053.5:c.8238A>G ENSP00000424571.1:p.Ser2746=
ENST00000619499.4:c.8235A>G ENSP00000482132.1:p.Ser2745=
NM_001999.3:c.8238A>G NP_001990.2:p.Ser2746=
XM_017009228.2:c.8085A>G XP_016864717.1:p.Ser2695=
NM_001999.4:c.8238A>G MANE Select NP_001990.2:p.Ser2746=
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