Canonical Allele Identifier: CA341502145

Gene: CELSR2

Linked Data

• MyVariant Identifiers: chr1:g.109807172C>T (hg19) ; chr1:g.109264550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264550C>T , CM000663.2:g.109264550C>T	GRCh38
NC_000001.10:g.109807172C>T , CM000663.1:g.109807172C>T	GRCh37
NC_000001.9:g.109608695C>T	NCBI36
NG_052669.1:g.19846C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5386C>T MANE Select	ENSP00000271332.3:p.Pro1796Ser
ENST00000271332.3:c.5386C>T	ENSP00000271332.3:p.Pro1796Ser
NM_001408.2:c.5386C>T	NP_001399.1:p.Pro1796Ser
XM_005270580.3:c.5386C>T	XP_005270637.1:p.Pro1796Ser
NM_001408.3:c.5386C>T MANE Select	NP_001399.1:p.Pro1796Ser