Canonical Allele Identifier: CA341501928
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1570786483
MyVariant Identifiers: chr1:g.109806989T>G (hg19) chr1:g.109264367T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264367T>G , CM000663.2:g.109264367T>G GRCh38
NC_000001.10:g.109806989T>G , CM000663.1:g.109806989T>G GRCh37
NC_000001.9:g.109608512T>G NCBI36
NG_052669.1:g.19663T>G

Transcript Alleles

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