Canonical Allele Identifier: CA2646915919
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v4: 1-109264030-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264030G>T , CM000663.2:g.109264030G>T GRCh38
NC_000001.10:g.109806652G>T , CM000663.1:g.109806652G>T GRCh37
NC_000001.9:g.109608175G>T NCBI36
NG_052669.1:g.19326G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5002-48G>T MANE Select ENSP00000271332.3:n.5002-48G>T
ENST00000271332.3:c.5002-48G>T ENSP00000271332.3:n.5002-48G>T
NM_001408.2:c.5002-48G>T NP_001399.1:n.5002-48G>T
XM_005270580.3:c.5002-48G>T XP_005270637.1:n.5002-48G>T
NM_001408.3:c.5002-48G>T MANE Select NP_001399.1:n.5002-48G>T
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