Canonical Allele Identifier: CA28643641
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs537365425
gnomAD v2: 1-109817203-G-A
gnomAD v3: 1-109274581-G-A
gnomAD v4: 1-109274581-G-A
MyVariant Identifiers: chr1:g.109817203G>A (hg19) chr1:g.109274581G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109274581G>A , CM000663.2:g.109274581G>A GRCh38
NC_000001.10:g.109817203G>A , CM000663.1:g.109817203G>A GRCh37
NC_000001.9:g.109618726G>A NCBI36
NG_052669.1:g.29877G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000271332.4:c.*532G>A MANE Select ENSP00000271332.3:n.*532G>A
ENST00000271332.3:c.*532G>A ENSP00000271332.3:n.*532G>A
ENST00000498157.1:n.2654G>A
NM_001408.2:c.*532G>A NP_001399.1:n.*532G>A
XM_005270580.3:c.*399G>A XP_005270637.1:n.*399G>A
NM_001408.3:c.*532G>A MANE Select NP_001399.1:n.*532G>A
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