Canonical Allele Identifier: CA341501963
Gene: CELSR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2778469
ClinVar RCV Id: RCV003661500
dbSNP Id: rs372896199
MyVariant Identifiers: chr1:g.109807091G>T (hg19) chr1:g.109264469G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264469G>T , CM000663.2:g.109264469G>T GRCh38
NC_000001.10:g.109807091G>T , CM000663.1:g.109807091G>T GRCh37
NC_000001.9:g.109608614G>T NCBI36
NG_052669.1:g.19765G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5305G>T MANE Select ENSP00000271332.3:p.Asp1769Tyr
ENST00000271332.3:c.5305G>T ENSP00000271332.3:p.Asp1769Tyr
NM_001408.2:c.5305G>T NP_001399.1:p.Asp1769Tyr
XM_005270580.3:c.5305G>T XP_005270637.1:p.Asp1769Tyr
NM_001408.3:c.5305G>T MANE Select NP_001399.1:p.Asp1769Tyr
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