Canonical Allele Identifier: CA1005627714
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1340818362
gnomAD v3: 1-109264401-C-T
gnomAD v4: 1-109264401-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264401C>T , CM000663.2:g.109264401C>T GRCh38
NC_000001.10:g.109807023C>T , CM000663.1:g.109807023C>T GRCh37
NC_000001.9:g.109608546C>T NCBI36
NG_052669.1:g.19697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+36C>T MANE Select ENSP00000271332.3:n.5289+36C>T
ENST00000271332.3:c.5289+36C>T ENSP00000271332.3:n.5289+36C>T
NM_001408.2:c.5289+36C>T NP_001399.1:n.5289+36C>T
XM_005270580.3:c.5289+36C>T XP_005270637.1:n.5289+36C>T
NM_001408.3:c.5289+36C>T MANE Select NP_001399.1:n.5289+36C>T
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