Canonical Allele Identifier: CA419677923
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1656116823
MyVariant Identifiers: chr1:g.109806741G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264119G>A , CM000663.2:g.109264119G>A GRCh38
NC_000001.10:g.109806741G>A , CM000663.1:g.109806741G>A GRCh37
NC_000001.9:g.109608264G>A NCBI36
NG_052669.1:g.19415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5043G>A MANE Select ENSP00000271332.3:p.Gly1681=
ENST00000271332.3:c.5043G>A ENSP00000271332.3:p.Gly1681=
NM_001408.2:c.5043G>A NP_001399.1:p.Gly1681=
XM_005270580.3:c.5043G>A XP_005270637.1:p.Gly1681=
NM_001408.3:c.5043G>A MANE Select NP_001399.1:p.Gly1681=