Canonical Allele Identifier: CA320216
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213255
ClinVar RCV Id: RCV002277513 RCV002310776 RCV002500602
dbSNP Id: rs145353444
ExAC: 5:127597553 G / C
gnomAD v2: 5-127597553-G-C
gnomAD v3: 5-128261861-G-C
gnomAD v4: 5-128261861-G-C
MyVariant Identifiers: chr5:g.127597553G>C (hg19) chr5:g.128261861G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128261861G>C , CM000667.2:g.128261861G>C GRCh38
NC_000005.9:g.127597553G>C , CM000667.1:g.127597553G>C GRCh37
NC_000005.8:g.127625452G>C NCBI36
NG_008750.1:g.281183C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262464.9:c.8239C>G MANE Select ENSP00000262464.4:p.Leu2747Val
ENST00000262464.8:c.8239C>G ENSP00000262464.4:p.Leu2747Val
ENST00000508053.5:c.8239C>G ENSP00000424571.1:p.Leu2747Val
ENST00000619499.4:c.8236C>G ENSP00000482132.1:p.Leu2746Val
NM_001999.3:c.8239C>G NP_001990.2:p.Leu2747Val
XM_017009228.2:c.8086C>G XP_016864717.1:p.Leu2696Val
NM_001999.4:c.8239C>G MANE Select NP_001990.2:p.Leu2747Val
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