Canonical Allele Identifier: CA419678620
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109264541-C-T
MyVariant Identifiers: chr1:g.109807163C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264541C>T , CM000663.2:g.109264541C>T GRCh38
NC_000001.10:g.109807163C>T , CM000663.1:g.109807163C>T GRCh37
NC_000001.9:g.109608686C>T NCBI36
NG_052669.1:g.19837C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5377C>T MANE Select ENSP00000271332.3:p.Leu1793=
ENST00000271332.3:c.5377C>T ENSP00000271332.3:p.Leu1793=
NM_001408.2:c.5377C>T NP_001399.1:p.Leu1793=
XM_005270580.3:c.5377C>T XP_005270637.1:p.Leu1793=
NM_001408.3:c.5377C>T MANE Select NP_001399.1:p.Leu1793=
Search 100 bp 5'
Search 100 bp 3'