Canonical Allele Identifier: CA2646916328
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109264403-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264403C>G , CM000663.2:g.109264403C>G GRCh38
NC_000001.10:g.109807025C>G , CM000663.1:g.109807025C>G GRCh37
NC_000001.9:g.109608548C>G NCBI36
NG_052669.1:g.19699C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+38C>G MANE Select ENSP00000271332.3:n.5289+38C>G
ENST00000271332.3:c.5289+38C>G ENSP00000271332.3:n.5289+38C>G
NM_001408.2:c.5289+38C>G NP_001399.1:n.5289+38C>G
XM_005270580.3:c.5289+38C>G XP_005270637.1:n.5289+38C>G
NM_001408.3:c.5289+38C>G MANE Select NP_001399.1:n.5289+38C>G
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