Canonical Allele Identifier: CA987524

Gene: CELSR2

Linked Data

• dbSNP Id: rs770487504
• ExAC: 1:109807129 T / C
• gnomAD v2: 1-109807129-T-C
• gnomAD v3: 1-109264507-T-C
• gnomAD v4: 1-109264507-T-C
• MyVariant Identifiers: chr1:g.109807129T>C (hg19) ; chr1:g.109264507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264507T>C , CM000663.2:g.109264507T>C	GRCh38
NC_000001.10:g.109807129T>C , CM000663.1:g.109807129T>C	GRCh37
NC_000001.9:g.109608652T>C	NCBI36
NG_052669.1:g.19803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5343T>C MANE Select	ENSP00000271332.3:p.His1781=
ENST00000271332.3:c.5343T>C	ENSP00000271332.3:p.His1781=
NM_001408.2:c.5343T>C	NP_001399.1:p.His1781=
XM_005270580.3:c.5343T>C	XP_005270637.1:p.His1781=
NM_001408.3:c.5343T>C MANE Select	NP_001399.1:p.His1781=