Canonical Allele Identifier: CA341501906
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs927238797
gnomAD v4: 1-109264358-G-C
MyVariant Identifiers: chr1:g.109806980G>C (hg19) chr1:g.109264358G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264358G>C , CM000663.2:g.109264358G>C GRCh38
NC_000001.10:g.109806980G>C , CM000663.1:g.109806980G>C GRCh37
NC_000001.9:g.109608503G>C NCBI36
NG_052669.1:g.19654G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5282G>C MANE Select ENSP00000271332.3:p.Cys1761Ser
ENST00000271332.3:c.5282G>C ENSP00000271332.3:p.Cys1761Ser
NM_001408.2:c.5282G>C NP_001399.1:p.Cys1761Ser
XM_005270580.3:c.5282G>C XP_005270637.1:p.Cys1761Ser
NM_001408.3:c.5282G>C MANE Select NP_001399.1:p.Cys1761Ser
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