Canonical Allele Identifier: CA987453
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs140173606
ExAC: 1:109806874 G / T
MyVariant Identifiers: chr1:g.109806874G>T (hg19) chr1:g.109264252G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264252G>T , CM000663.2:g.109264252G>T GRCh38
NC_000001.10:g.109806874G>T , CM000663.1:g.109806874G>T GRCh37
NC_000001.9:g.109608397G>T NCBI36
NG_052669.1:g.19548G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5176G>T MANE Select ENSP00000271332.3:p.Ala1726Ser
ENST00000271332.3:c.5176G>T ENSP00000271332.3:p.Ala1726Ser
NM_001408.2:c.5176G>T NP_001399.1:p.Ala1726Ser
XM_005270580.3:c.5176G>T XP_005270637.1:p.Ala1726Ser
NM_001408.3:c.5176G>T MANE Select NP_001399.1:p.Ala1726Ser
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