Canonical Allele Identifier: CA487325182

Gene: POMT2

Linked Data

• dbSNP Id: rs2139480540
• MyVariant Identifiers: chr14:g.77767514A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301171A>G , CM000676.2:g.77301171A>G	GRCh38
NC_000014.8:g.77767514A>G , CM000676.1:g.77767514A>G	GRCh37
NC_000014.7:g.76837267A>G	NCBI36
NG_008897.1:g.24712T>C , LRG_844:g.24712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.188T>C	ENSP00000508202.1:n.188T>C
ENST00000556394.2:c.358-1610T>C	ENSP00000451967.2:n.358-1610T>C
ENST00000556880.6:n.759T>C
ENST00000557289.2:c.79T>C
ENST00000682247.1:c.735T>C	ENSP00000507213.1:p.Val245=
ENST00000682382.1:c.496-2400T>C
ENST00000682395.1:n.464T>C
ENST00000682459.1:n.399T>C
ENST00000682467.1:c.735T>C	ENSP00000508062.1:p.Val245=
ENST00000682795.1:c.735T>C	ENSP00000507574.1:p.Val245=
ENST00000682895.1:n.451T>C
ENST00000682955.1:n.212-2400T>C
ENST00000683167.1:c.79T>C
ENST00000683188.1:c.343-1610T>C
ENST00000683300.1:c.109+3521T>C	ENSP00000507630.1:n.109+3521T>C
ENST00000683328.1:c.109+3521T>C	ENSP00000508096.1:n.109+3521T>C
ENST00000683380.1:n.399T>C
ENST00000683398.1:c.79T>C
ENST00000683551.1:c.109+1664T>C
ENST00000683828.1:c.526-1610T>C
ENST00000684259.1:n.586T>C
ENST00000684549.1:n.368-1610T>C
ENST00000684554.1:c.79T>C
ENST00000261534.9:c.735T>C MANE Select	ENSP00000261534.4:p.Val245=
ENST00000261534.8:c.735T>C	ENSP00000261534.4:p.Val245=
ENST00000452340.7:n.758T>C
ENST00000553863.5:n.399T>C
ENST00000555675.5:n.451T>C
ENST00000556326.5:c.*401T>C	ENSP00000450630.1:n.*401T>C
ENST00000557289.1:c.56-1610T>C	ENSP00000451115.1:n.56-1610T>C
NM_013382.5:c.735T>C , LRG_844t1:c.735T>C	NP_037514.2:p.Val245=
XM_011536675.1:c.735T>C	XP_011534977.1:p.Val245=
XM_011536676.1:c.402T>C	XP_011534978.1:p.Val134=
XM_011536677.1:c.547+3521T>C	XP_011534979.1:n.547+3521T>C
XM_011536678.1:c.735T>C	XP_011534980.1:p.Val245=
XM_011536679.1:c.-90-1610T>C	XP_011534981.1:n.-90-1610T>C
XM_011536680.1:c.735T>C	XP_011534982.1:p.Val245=
XR_943416.1:n.938T>C
XM_011536675.2:c.735T>C	XP_011534977.1:p.Val245=
XM_011536676.2:c.402T>C	XP_011534978.1:p.Val134=
XM_011536677.3:c.547+3521T>C	XP_011534979.1:n.547+3521T>C
XR_001750279.1:n.935T>C
XR_001750282.1:n.939T>C
XR_943416.3:n.936T>C
NM_013382.6:c.735T>C	NP_037514.2:p.Val245=
NM_013382.7:c.735T>C MANE Select	NP_037514.2:p.Val245=