Canonical Allele Identifier: CA419678435
Gene: CELSR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.109807108T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264486T>G , CM000663.2:g.109264486T>G GRCh38
NC_000001.10:g.109807108T>G , CM000663.1:g.109807108T>G GRCh37
NC_000001.9:g.109608631T>G NCBI36
NG_052669.1:g.19782T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5322T>G MANE Select ENSP00000271332.3:p.Val1774=
ENST00000271332.3:c.5322T>G ENSP00000271332.3:p.Val1774=
NM_001408.2:c.5322T>G NP_001399.1:p.Val1774=
XM_005270580.3:c.5322T>G XP_005270637.1:p.Val1774=
NM_001408.3:c.5322T>G MANE Select NP_001399.1:p.Val1774=