Canonical Allele Identifier: CA987542

Gene: CELSR2

Linked Data

• dbSNP Id: rs776084621
• ExAC: 1:109807199 A / T
• gnomAD v2: 1-109807199-A-T
• gnomAD v3: 1-109264577-A-T
• gnomAD v4: 1-109264577-A-T
• MyVariant Identifiers: chr1:g.109807199A>T (hg19) ; chr1:g.109264577A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264577A>T , CM000663.2:g.109264577A>T	GRCh38
NC_000001.10:g.109807199A>T , CM000663.1:g.109807199A>T	GRCh37
NC_000001.9:g.109608722A>T	NCBI36
NG_052669.1:g.19873A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5413A>T MANE Select	ENSP00000271332.3:p.Asn1805Tyr
ENST00000271332.3:c.5413A>T	ENSP00000271332.3:p.Asn1805Tyr
NM_001408.2:c.5413A>T	NP_001399.1:p.Asn1805Tyr
XM_005270580.3:c.5413A>T	XP_005270637.1:p.Asn1805Tyr
NM_001408.3:c.5413A>T MANE Select	NP_001399.1:p.Asn1805Tyr