Canonical Allele Identifier: CA35994050

Gene: CAMSAP2

Linked Data

• dbSNP Id: rs575552024
• gnomAD v2: 1-200826784-T-C
• gnomAD v3: 1-200857656-T-C
• gnomAD v4: 1-200857656-T-C
• MyVariant Identifiers: chr1:g.200826784T>C (hg19) ; chr1:g.200857656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.200857656T>C , CM000663.2:g.200857656T>C	GRCh38
NC_000001.10:g.200826784T>C , CM000663.1:g.200826784T>C	GRCh37
NC_000001.9:g.199093407T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000358823.7:c.4132-98T>C MANE Select	ENSP00000351684.2:n.4132-98T>C
ENST00000236925.8:c.4165-98T>C	ENSP00000236925.4:n.4165-98T>C
ENST00000358823.6:c.4132-98T>C	ENSP00000351684.2:n.4132-98T>C
ENST00000413307.6:c.4084-98T>C	ENSP00000416800.2:n.4084-98T>C
ENST00000475326.1:c.383T>C
NM_001297707.1:c.4165-98T>C	NP_001284636.1:n.4165-98T>C
NM_001297708.1:c.4084-98T>C	NP_001284637.1:n.4084-98T>C
NM_203459.2:c.4132-98T>C	NP_982284.1:n.4132-98T>C
XM_005245041.2:c.4117-98T>C	XP_005245098.1:n.4117-98T>C
XM_005245041.3:c.4117-98T>C	XP_005245098.1:n.4117-98T>C
XM_017000799.1:c.3832-98T>C	XP_016856288.1:n.3832-98T>C
NM_001297707.2:c.4165-98T>C	NP_001284636.1:n.4165-98T>C
NM_001297708.2:c.4084-98T>C	NP_001284637.1:n.4084-98T>C
NM_203459.3:c.4132-98T>C	NP_982284.1:n.4132-98T>C
NM_001297707.3:c.4165-98T>C	NP_001284636.1:n.4165-98T>C
NM_001297708.3:c.4084-98T>C	NP_001284637.1:n.4084-98T>C
NM_001389638.1:c.4117-98T>C	NP_001376567.1:n.4117-98T>C
NM_203459.4:c.4132-98T>C MANE Select	NP_982284.1:n.4132-98T>C