Canonical Allele Identifier: CA341502085
Gene: CELSR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.109807146T>C (hg19) chr1:g.109264524T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264524T>C , CM000663.2:g.109264524T>C GRCh38
NC_000001.10:g.109807146T>C , CM000663.1:g.109807146T>C GRCh37
NC_000001.9:g.109608669T>C NCBI36
NG_052669.1:g.19820T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5360T>C MANE Select ENSP00000271332.3:p.Val1787Ala
ENST00000271332.3:c.5360T>C ENSP00000271332.3:p.Val1787Ala
NM_001408.2:c.5360T>C NP_001399.1:p.Val1787Ala
XM_005270580.3:c.5360T>C XP_005270637.1:p.Val1787Ala
NM_001408.3:c.5360T>C MANE Select NP_001399.1:p.Val1787Ala
Search 100 bp 5'
Search 100 bp 3'