Canonical Allele Identifier: CA3395853
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 258507
ClinVar RCV Id: RCV000251180 RCV000830165
dbSNP Id: rs28763953
ExAC: 5:127730778 G / C
gnomAD v2: 5-127730778-G-C
gnomAD v3: 5-128395085-G-C
gnomAD v4: 5-128395085-G-C
MyVariant Identifiers: chr5:g.127730778G>C (hg19) chr5:g.128395085G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128395085G>C , CM000667.2:g.128395085G>C GRCh38
NC_000005.9:g.127730778G>C , CM000667.1:g.127730778G>C GRCh37
NC_000005.8:g.127758677G>C NCBI36
NG_008750.1:g.147958C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703787.1:n.938+37C>G
ENST00000262464.9:c.1231+37C>G MANE Select ENSP00000262464.4:n.1231+37C>G
ENST00000262464.8:c.1231+37C>G ENSP00000262464.4:n.1231+37C>G
ENST00000508053.5:c.1231+37C>G ENSP00000424571.1:n.1231+37C>G
ENST00000508989.5:c.1132+37C>G ENSP00000425596.1:n.1132+37C>G
ENST00000619499.4:c.1228+37C>G ENSP00000482132.1:n.1228+37C>G
NM_001999.3:c.1231+37C>G NP_001990.2:n.1231+37C>G
XM_017009228.2:c.1079-1717C>G XP_016864717.1:n.1079-1717C>G
NM_001999.4:c.1231+37C>G MANE Select NP_001990.2:n.1231+37C>G
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