Canonical Allele Identifier: CA28632586
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1050401849
MyVariant Identifiers: chr1:g.109806952G>C (hg19) chr1:g.109264330G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264330G>C , CM000663.2:g.109264330G>C GRCh38
NC_000001.10:g.109806952G>C , CM000663.1:g.109806952G>C GRCh37
NC_000001.9:g.109608475G>C NCBI36
NG_052669.1:g.19626G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5254G>C MANE Select ENSP00000271332.3:p.Gly1752Arg
ENST00000271332.3:c.5254G>C ENSP00000271332.3:p.Gly1752Arg
NM_001408.2:c.5254G>C NP_001399.1:p.Gly1752Arg
XM_005270580.3:c.5254G>C XP_005270637.1:p.Gly1752Arg
NM_001408.3:c.5254G>C MANE Select NP_001399.1:p.Gly1752Arg
Search 100 bp 5'
Search 100 bp 3'