Canonical Allele Identifier: CA987469
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs750051706
ExAC: 1:109806945 G / A
gnomAD v2: 1-109806945-G-A
gnomAD v4: 1-109264323-G-A
MyVariant Identifiers: chr1:g.109806945G>A (hg19) chr1:g.109264323G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264323G>A , CM000663.2:g.109264323G>A GRCh38
NC_000001.10:g.109806945G>A , CM000663.1:g.109806945G>A GRCh37
NC_000001.9:g.109608468G>A NCBI36
NG_052669.1:g.19619G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5247G>A MANE Select ENSP00000271332.3:p.Gly1749=
ENST00000271332.3:c.5247G>A ENSP00000271332.3:p.Gly1749=
NM_001408.2:c.5247G>A NP_001399.1:p.Gly1749=
XM_005270580.3:c.5247G>A XP_005270637.1:p.Gly1749=
NM_001408.3:c.5247G>A MANE Select NP_001399.1:p.Gly1749=
Search 100 bp 5'
Search 100 bp 3'