Canonical Allele Identifier: CA1054232163

Gene: CLSTN2

Linked Data

• gnomAD v3: 3-140456552-T-C
• gnomAD v4: 3-140456552-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.140456552T>C , CM000665.2:g.140456552T>C	GRCh38
NC_000003.11:g.140175394T>C , CM000665.1:g.140175394T>C	GRCh37
NC_000003.10:g.141658084T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000458420.7:c.974-2969T>C MANE Select	ENSP00000402460.2:n.974-2969T>C
ENST00000511524.1:n.1162-2969T>C
ENST00000620185.1:c.782-2969T>C	ENSP00000478883.1:n.782-2969T>C
NM_022131.2:c.974-2969T>C	NP_071414.2:n.974-2969T>C
XR_924548.1:n.49-1799A>G
XR_924549.1:n.49-1799A>G
XM_017007022.2:c.899-2969T>C	XP_016862511.1:n.899-2969T>C
XR_924548.2:n.1503-1799A>G
XR_924549.2:n.1503-1799A>G
NM_022131.3:c.974-2969T>C MANE Select	NP_071414.2:n.974-2969T>C