Canonical Allele Identifier: CA419678546
Gene: CELSR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.109806957T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264335T>G , CM000663.2:g.109264335T>G GRCh38
NC_000001.10:g.109806957T>G , CM000663.1:g.109806957T>G GRCh37
NC_000001.9:g.109608480T>G NCBI36
NG_052669.1:g.19631T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5259T>G MANE Select ENSP00000271332.3:p.Gly1753=
ENST00000271332.3:c.5259T>G ENSP00000271332.3:p.Gly1753=
NM_001408.2:c.5259T>G NP_001399.1:p.Gly1753=
XM_005270580.3:c.5259T>G XP_005270637.1:p.Gly1753=
NM_001408.3:c.5259T>G MANE Select NP_001399.1:p.Gly1753=