Canonical Allele Identifier: CA28632485
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs925143145
MyVariant Identifiers: chr1:g.109806912C>G (hg19) chr1:g.109264290C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264290C>G , CM000663.2:g.109264290C>G GRCh38
NC_000001.10:g.109806912C>G , CM000663.1:g.109806912C>G GRCh37
NC_000001.9:g.109608435C>G NCBI36
NG_052669.1:g.19586C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5214C>G MANE Select ENSP00000271332.3:p.His1738Gln
ENST00000271332.3:c.5214C>G ENSP00000271332.3:p.His1738Gln
NM_001408.2:c.5214C>G NP_001399.1:p.His1738Gln
XM_005270580.3:c.5214C>G XP_005270637.1:p.His1738Gln
NM_001408.3:c.5214C>G MANE Select NP_001399.1:p.His1738Gln
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