Canonical Allele Identifier: CA341501974
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1656133667
gnomAD v4: 1-109264475-C-A
MyVariant Identifiers: chr1:g.109807097C>A (hg19) chr1:g.109264475C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264475C>A , CM000663.2:g.109264475C>A GRCh38
NC_000001.10:g.109807097C>A , CM000663.1:g.109807097C>A GRCh37
NC_000001.9:g.109608620C>A NCBI36
NG_052669.1:g.19771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5311C>A MANE Select ENSP00000271332.3:p.Pro1771Thr
ENST00000271332.3:c.5311C>A ENSP00000271332.3:p.Pro1771Thr
NM_001408.2:c.5311C>A NP_001399.1:p.Pro1771Thr
XM_005270580.3:c.5311C>A XP_005270637.1:p.Pro1771Thr
NM_001408.3:c.5311C>A MANE Select NP_001399.1:p.Pro1771Thr
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