Canonical Allele Identifier: CA341501864
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1242021118
gnomAD v3: 1-109264334-G-T
gnomAD v4: 1-109264334-G-T
MyVariant Identifiers: chr1:g.109806956G>T (hg19) chr1:g.109264334G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264334G>T , CM000663.2:g.109264334G>T GRCh38
NC_000001.10:g.109806956G>T , CM000663.1:g.109806956G>T GRCh37
NC_000001.9:g.109608479G>T NCBI36
NG_052669.1:g.19630G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5258G>T MANE Select ENSP00000271332.3:p.Gly1753Val
ENST00000271332.3:c.5258G>T ENSP00000271332.3:p.Gly1753Val
NM_001408.2:c.5258G>T NP_001399.1:p.Gly1753Val
XM_005270580.3:c.5258G>T XP_005270637.1:p.Gly1753Val
NM_001408.3:c.5258G>T MANE Select NP_001399.1:p.Gly1753Val
Search 100 bp 5'
Search 100 bp 3'