Canonical Allele Identifier: CA987470
Gene: CELSR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3054507
ClinVar RCV Id: RCV003954798
dbSNP Id: rs199761472
ExAC: 1:109806946 C / T
gnomAD v2: 1-109806946-C-T
gnomAD v3: 1-109264324-C-T
gnomAD v4: 1-109264324-C-T
MyVariant Identifiers: chr1:g.109806946C>T (hg19) chr1:g.109264324C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264324C>T , CM000663.2:g.109264324C>T GRCh38
NC_000001.10:g.109806946C>T , CM000663.1:g.109806946C>T GRCh37
NC_000001.9:g.109608469C>T NCBI36
NG_052669.1:g.19620C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5248C>T MANE Select ENSP00000271332.3:p.Pro1750Ser
ENST00000271332.3:c.5248C>T ENSP00000271332.3:p.Pro1750Ser
NM_001408.2:c.5248C>T NP_001399.1:p.Pro1750Ser
XM_005270580.3:c.5248C>T XP_005270637.1:p.Pro1750Ser
NM_001408.3:c.5248C>T MANE Select NP_001399.1:p.Pro1750Ser
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