Canonical Allele Identifier: CA127003430
Gene: FBN2 HGNC NCBI

Linked Data

dbSNP Id: rs377625230
gnomAD v2: 5-127597354-C-T
gnomAD v3: 5-128261662-C-T
gnomAD v4: 5-128261662-C-T
MyVariant Identifiers: chr5:g.127597354C>T (hg19) chr5:g.127597354_127597358delinsTGACG (hg19) chr5:g.128261662C>T (hg38) chr5:g.128261662_128261666delinsTGACG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261662C>T , CM000667.2:g.128261662C>T GRCh38
NC_000005.9:g.127597354C>T , CM000667.1:g.127597354C>T GRCh37
NC_000005.8:g.127625253C>T NCBI36
NG_008750.1:g.281382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.8364+74G>A MANE Select ENSP00000262464.4:n.8364+74G>A
ENST00000262464.8:c.8364+74G>A ENSP00000262464.4:n.8364+74G>A
ENST00000508053.5:c.8364+74G>A ENSP00000424571.1:n.8364+74G>A
ENST00000619499.4:c.8361+74G>A ENSP00000482132.1:n.8361+74G>A
NM_001999.3:c.8364+74G>A NP_001990.2:n.8364+74G>A
XM_017009228.2:c.8211+74G>A XP_016864717.1:n.8211+74G>A
NM_001999.4:c.8364+74G>A MANE Select NP_001990.2:n.8364+74G>A
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