Canonical Allele Identifier: CA3395495
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2916991
ClinVar RCV Id: RCV003642332
dbSNP Id: rs746173019
ExAC: 5:127693070 T / C
gnomAD v2: 5-127693070-T-C
gnomAD v4: 5-128357378-T-C
MyVariant Identifiers: chr5:g.127693070T>C (hg19) chr5:g.128357378T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128357378T>C , CM000667.2:g.128357378T>C GRCh38
NC_000005.9:g.127693070T>C , CM000667.1:g.127693070T>C GRCh37
NC_000005.8:g.127720969T>C NCBI36
NG_008750.1:g.185666A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262464.9:c.2572A>G MANE Select ENSP00000262464.4:p.Ser858Gly
ENST00000262464.8:c.2572A>G ENSP00000262464.4:p.Ser858Gly
ENST00000508053.5:c.2572A>G ENSP00000424571.1:p.Ser858Gly
ENST00000508989.5:c.2473A>G ENSP00000425596.1:p.Ser825Gly
ENST00000619499.4:c.2569A>G ENSP00000482132.1:p.Ser857Gly
NM_001999.3:c.2572A>G NP_001990.2:p.Ser858Gly
XM_017009228.2:c.2419A>G XP_016864717.1:p.Ser807Gly
NM_001999.4:c.2572A>G MANE Select NP_001990.2:p.Ser858Gly
Search 100 bp 5'
Search 100 bp 3'