Canonical Allele Identifier: CA525625817
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs747651661
gnomAD v2: 1-109806690-C-T
gnomAD v3: 1-109264068-C-T
gnomAD v4: 1-109264068-C-T
MyVariant Identifiers: chr1:g.109806690C>T (hg19) chr1:g.109264068C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264068C>T , CM000663.2:g.109264068C>T GRCh38
NC_000001.10:g.109806690C>T , CM000663.1:g.109806690C>T GRCh37
NC_000001.9:g.109608213C>T NCBI36
NG_052669.1:g.19364C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5002-10C>T MANE Select ENSP00000271332.3:n.5002-10C>T
ENST00000271332.3:c.5002-10C>T ENSP00000271332.3:n.5002-10C>T
NM_001408.2:c.5002-10C>T NP_001399.1:n.5002-10C>T
XM_005270580.3:c.5002-10C>T XP_005270637.1:n.5002-10C>T
NM_001408.3:c.5002-10C>T MANE Select NP_001399.1:n.5002-10C>T
Search 100 bp 5'
Search 100 bp 3'