Canonical Allele Identifier: CA323111
Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 213229
ClinVar RCV Id: RCV000298589 RCV001711507 RCV002503763 RCV002453718
dbSNP Id: rs199678757
ExAC: 5:127673769 G / C
gnomAD v2: 5-127673769-G-C
gnomAD v3: 5-128338077-G-C
gnomAD v4: 5-128338077-G-C
COSMIC: COSM3683668 COSM3683669
MyVariant Identifiers: chr5:g.127673769G>C (hg19) chr5:g.128338077G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.128338077G>C , CM000667.2:g.128338077G>C GRCh38
NC_000005.9:g.127673769G>C , CM000667.1:g.127673769G>C GRCh37
NC_000005.8:g.127701668G>C NCBI36
NG_008750.1:g.204967C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703783.1:n.302C>G
ENST00000703785.1:n.383C>G
ENST00000262464.9:c.3518C>G MANE Select ENSP00000262464.4:p.Thr1173Ser
ENST00000262464.8:c.3518C>G ENSP00000262464.4:p.Thr1173Ser
ENST00000507835.5:c.68C>G ENSP00000426839.1:p.Thr23Ser
ENST00000508053.5:c.3518C>G ENSP00000424571.1:p.Thr1173Ser
ENST00000508989.5:c.3419C>G ENSP00000425596.1:p.Thr1140Ser
ENST00000619499.4:c.3515C>G ENSP00000482132.1:p.Thr1172Ser
NM_001999.3:c.3518C>G NP_001990.2:p.Thr1173Ser
XM_017009228.2:c.3365C>G XP_016864717.1:p.Thr1122Ser
NM_001999.4:c.3518C>G MANE Select NP_001990.2:p.Thr1173Ser
Search 100 bp 5'
Search 100 bp 3'