Canonical Allele Identifier: CA252637

Gene: POMT2

Linked Data

• ClinVar Variation Id: 3230
• ClinVar RCV Id: RCV000003386
• dbSNP Id: rs267606967
• MyVariant Identifiers: chr14:g.77743729C>G (hg19) ; chr14:g.77277386C>G (hg38)
• PubMed: PMID:17878207

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77277386C>G , CM000676.2:g.77277386C>G	GRCh38
NC_000014.8:g.77743729C>G , CM000676.1:g.77743729C>G	GRCh37
NC_000014.7:g.76813482C>G	NCBI36
NG_008897.1:g.48497G>C , LRG_844:g.48497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1168G>C
ENST00000556394.2:c.1784G>C	ENSP00000451967.2:p.Trp595Ser
ENST00000682247.1:c.2232G>C	ENSP00000507213.1:p.Met744Ile
ENST00000682395.1:n.2707G>C
ENST00000682459.1:n.1946G>C
ENST00000682467.1:c.2102G>C	ENSP00000508062.1:p.Trp701Ser
ENST00000682795.1:c.2390G>C	ENSP00000507574.1:p.Trp797Ser
ENST00000682895.1:n.1959G>C
ENST00000682897.1:c.96G>C
ENST00000682955.1:n.1817G>C
ENST00000683188.1:c.2504G>C
ENST00000683380.1:n.1907G>C
ENST00000683784.1:c.96G>C
ENST00000684259.1:n.4010G>C
ENST00000684538.1:n.1622G>C
ENST00000684549.1:n.1794G>C
ENST00000261534.9:c.2243G>C MANE Select	ENSP00000261534.4:p.Trp748Ser
ENST00000261534.8:c.2243G>C	ENSP00000261534.4:p.Trp748Ser
ENST00000452340.7:n.3219G>C
ENST00000554767.5:n.3029G>C
ENST00000556394.1:c.298G>C
ENST00000602717.5:c.363-108G>C	ENSP00000487704.1:n.363-108G>C
NM_013382.5:c.2243G>C , LRG_844t1:c.2243G>C	NP_037514.2:p.Trp748Ser
XM_011536675.1:c.2432G>C	XP_011534977.1:p.Trp811Ser
XM_011536676.1:c.2099G>C	XP_011534978.1:p.Trp700Ser
XM_011536677.1:c.1973G>C	XP_011534979.1:p.Trp658Ser
XM_011536679.1:c.1526G>C	XP_011534981.1:p.Trp509Ser
XR_943416.1:n.2496G>C
XM_011536675.2:c.2432G>C	XP_011534977.1:p.Trp811Ser
XM_011536676.2:c.2099G>C	XP_011534978.1:p.Trp700Ser
XM_011536677.3:c.1973G>C	XP_011534979.1:p.Trp658Ser
XR_001750279.1:n.2529G>C
XR_001750282.1:n.3182G>C
XR_943416.3:n.2494G>C
NM_013382.6:c.2243G>C	NP_037514.2:p.Trp748Ser
NM_013382.7:c.2243G>C MANE Select	NP_037514.2:p.Trp748Ser