Canonical Allele Identifier: CA323567
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213251
ClinVar RCV Id: RCV000199023 RCV000460061 RCV001579980 RCV004017478
dbSNP Id: rs200998513
ExAC: 5:127613566 C / T
gnomAD v2: 5-127613566-C-T
gnomAD v3: 5-128277874-C-T
gnomAD v4: 5-128277874-C-T
MyVariant Identifiers: chr5:g.127613566C>T (hg19) chr5:g.128277874C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128277874C>T , CM000667.2:g.128277874C>T GRCh38
NC_000005.9:g.127613566C>T , CM000667.1:g.127613566C>T GRCh37
NC_000005.8:g.127641465C>T NCBI36
NG_008750.1:g.265170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.4255+6G>A
ENST00000262464.9:c.7471+6G>A MANE Select ENSP00000262464.4:n.7471+6G>A
ENST00000262464.8:c.7471+6G>A ENSP00000262464.4:n.7471+6G>A
ENST00000508053.5:c.7471+6G>A ENSP00000424571.1:n.7471+6G>A
ENST00000619499.4:c.7468+6G>A ENSP00000482132.1:n.7468+6G>A
NM_001999.3:c.7471+6G>A NP_001990.2:n.7471+6G>A
XM_017009228.2:c.7318+6G>A XP_016864717.1:n.7318+6G>A
NM_001999.4:c.7471+6G>A MANE Select NP_001990.2:n.7471+6G>A
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