Canonical Allele Identifier: CA419678499
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs374727373
gnomAD v4: 1-109264320-T-C
MyVariant Identifiers: chr1:g.109806942T>C (hg19) chr1:g.109264320T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264320T>C , CM000663.2:g.109264320T>C GRCh38
NC_000001.10:g.109806942T>C , CM000663.1:g.109806942T>C GRCh37
NC_000001.9:g.109608465T>C NCBI36
NG_052669.1:g.19616T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5244T>C MANE Select ENSP00000271332.3:p.Pro1748=
ENST00000271332.3:c.5244T>C ENSP00000271332.3:p.Pro1748=
NM_001408.2:c.5244T>C NP_001399.1:p.Pro1748=
XM_005270580.3:c.5244T>C XP_005270637.1:p.Pro1748=
NM_001408.3:c.5244T>C MANE Select NP_001399.1:p.Pro1748=
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