Canonical Allele Identifier: CA28632000
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs576792900
gnomAD v2: 1-109806571-T-TA
gnomAD v3: 1-109263949-T-TA
gnomAD v4: 1-109263949-T-TA
MyVariant Identifiers: chr1:g.109806571_109806572insA (hg19) chr1:g.109263949_109263950insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109263950dup , CM000663.2:g.109263950dup GRCh38
NC_000001.10:g.109806572dup , CM000663.1:g.109806572dup GRCh37
NC_000001.9:g.109608095dup NCBI36
NG_052669.1:g.19246dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5002-128dup MANE Select ENSP00000271332.3:n.5002-128dup
ENST00000271332.3:c.5002-128dup ENSP00000271332.3:n.5002-128dup
NM_001408.2:c.5002-128dup NP_001399.1:n.5002-128dup
XM_005270580.3:c.5002-128dup XP_005270637.1:n.5002-128dup
NM_001408.3:c.5002-128dup MANE Select NP_001399.1:n.5002-128dup
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