Canonical Allele Identifier: CA10645023

Gene: POMT2

Linked Data

• ClinVar Variation Id: 314535
• ClinVar RCV Id: RCV000380160
• dbSNP Id: rs886050818
• gnomAD v2: 14-77742792-C-G
• gnomAD v3: 14-77276449-C-G
• gnomAD v4: 14-77276449-C-G
• MyVariant Identifiers: chr14:g.77742792C>G (hg19) ; chr14:g.77276449C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77276449C>G , CM000676.2:g.77276449C>G	GRCh38
NC_000014.8:g.77742792C>G , CM000676.1:g.77742792C>G	GRCh37
NC_000014.7:g.76812545C>G	NCBI36
NG_008897.1:g.49434G>C , LRG_844:g.49434G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.*927G>C	ENSP00000451967.2:n.*927G>C
ENST00000682467.1:c.*927G>C	ENSP00000508062.1:n.*927G>C
ENST00000682897.1:c.1033G>C
ENST00000682955.1:n.2754G>C
ENST00000683380.1:n.2844G>C
ENST00000683784.1:c.1033G>C
ENST00000261534.9:c.*927G>C MANE Select	ENSP00000261534.4:n.*927G>C
ENST00000261534.8:c.*927G>C	ENSP00000261534.4:n.*927G>C
ENST00000452340.7:n.4156G>C
ENST00000554767.5:n.3966G>C
NM_013382.5:c.*927G>C , LRG_844t1:c.*927G>C	NP_037514.2:n.*927G>C
XM_011536675.1:c.*927G>C	XP_011534977.1:n.*927G>C
XM_011536676.1:c.*927G>C	XP_011534978.1:n.*927G>C
XM_011536677.1:c.*927G>C	XP_011534979.1:n.*927G>C
XM_011536679.1:c.*927G>C	XP_011534981.1:n.*927G>C
XM_011536675.2:c.*927G>C	XP_011534977.1:n.*927G>C
XM_011536676.2:c.*927G>C	XP_011534978.1:n.*927G>C
XM_011536677.3:c.*927G>C	XP_011534979.1:n.*927G>C
XR_001750279.1:n.3466G>C
XR_001750282.1:n.4119G>C
XR_943416.3:n.3431G>C
NM_013382.6:c.*927G>C	NP_037514.2:n.*927G>C
NM_013382.7:c.*927G>C MANE Select	NP_037514.2:n.*927G>C