Canonical Allele Identifier: CA341501992
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1251472207
gnomAD v2: 1-109807106-G-T
gnomAD v4: 1-109264484-G-T
MyVariant Identifiers: chr1:g.109807106G>T (hg19) chr1:g.109264484G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264484G>T , CM000663.2:g.109264484G>T GRCh38
NC_000001.10:g.109807106G>T , CM000663.1:g.109807106G>T GRCh37
NC_000001.9:g.109608629G>T NCBI36
NG_052669.1:g.19780G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5320G>T MANE Select ENSP00000271332.3:p.Val1774Phe
ENST00000271332.3:c.5320G>T ENSP00000271332.3:p.Val1774Phe
NM_001408.2:c.5320G>T NP_001399.1:p.Val1774Phe
XM_005270580.3:c.5320G>T XP_005270637.1:p.Val1774Phe
NM_001408.3:c.5320G>T MANE Select NP_001399.1:p.Val1774Phe
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