Canonical Allele Identifier: CA987477

Gene: CELSR2

Linked Data

• dbSNP Id: rs115968305
• ExAC: 1:109806964 C / T
• gnomAD v2: 1-109806964-C-T
• gnomAD v3: 1-109264342-C-T
• gnomAD v4: 1-109264342-C-T
• MyVariant Identifiers: chr1:g.109806964C>T (hg19) ; chr1:g.109264342C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264342C>T , CM000663.2:g.109264342C>T	GRCh38
NC_000001.10:g.109806964C>T , CM000663.1:g.109806964C>T	GRCh37
NC_000001.9:g.109608487C>T	NCBI36
NG_052669.1:g.19638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5266C>T MANE Select	ENSP00000271332.3:p.Arg1756Cys
ENST00000271332.3:c.5266C>T	ENSP00000271332.3:p.Arg1756Cys
NM_001408.2:c.5266C>T	NP_001399.1:p.Arg1756Cys
XM_005270580.3:c.5266C>T	XP_005270637.1:p.Arg1756Cys
NM_001408.3:c.5266C>T MANE Select	NP_001399.1:p.Arg1756Cys