Canonical Allele Identifier: CA28632034
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs925078465
gnomAD v4: 1-109263979-C-T
MyVariant Identifiers: chr1:g.109806601C>T (hg19) chr1:g.109263979C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109263979C>T , CM000663.2:g.109263979C>T GRCh38
NC_000001.10:g.109806601C>T , CM000663.1:g.109806601C>T GRCh37
NC_000001.9:g.109608124C>T NCBI36
NG_052669.1:g.19275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5002-99C>T MANE Select ENSP00000271332.3:n.5002-99C>T
ENST00000271332.3:c.5002-99C>T ENSP00000271332.3:n.5002-99C>T
NM_001408.2:c.5002-99C>T NP_001399.1:n.5002-99C>T
XM_005270580.3:c.5002-99C>T XP_005270637.1:n.5002-99C>T
NM_001408.3:c.5002-99C>T MANE Select NP_001399.1:n.5002-99C>T
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