Canonical Allele Identifier: CA987497
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs769882704
ExAC: 1:109807036 C / T
gnomAD v2: 1-109807036-C-T
gnomAD v3: 1-109264414-C-T
gnomAD v4: 1-109264414-C-T
MyVariant Identifiers: chr1:g.109807036C>T (hg19) chr1:g.109807036_109807039delinsTCCG (hg19) chr1:g.109264414C>T (hg38) chr1:g.109264414_109264417delinsTCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264414C>T , CM000663.2:g.109264414C>T GRCh38
NC_000001.10:g.109807036C>T , CM000663.1:g.109807036C>T GRCh37
NC_000001.9:g.109608559C>T NCBI36
NG_052669.1:g.19710C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5290-40C>T MANE Select ENSP00000271332.3:n.5290-40C>T
ENST00000271332.3:c.5290-40C>T ENSP00000271332.3:n.5290-40C>T
NM_001408.2:c.5290-40C>T NP_001399.1:n.5290-40C>T
XM_005270580.3:c.5290-40C>T XP_005270637.1:n.5290-40C>T
NM_001408.3:c.5290-40C>T MANE Select NP_001399.1:n.5290-40C>T
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