Canonical Allele Identifier: CA390517706

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753123C>G (hg19) ; chr14:g.77286780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286780C>G , CM000676.2:g.77286780C>G	GRCh38
NC_000014.8:g.77753123C>G , CM000676.1:g.77753123C>G	GRCh37
NC_000014.7:g.76822876C>G	NCBI36
NG_008897.1:g.39103G>C , LRG_844:g.39103G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.837G>C	ENSP00000451967.2:p.Met279Ile
ENST00000682247.1:c.1296G>C	ENSP00000507213.1:p.Met432Ile
ENST00000682382.1:c.868G>C
ENST00000682395.1:n.1474G>C
ENST00000682459.1:n.999G>C
ENST00000682467.1:c.1296G>C	ENSP00000508062.1:p.Met432Ile
ENST00000682706.1:n.73G>C
ENST00000682795.1:c.1296G>C	ENSP00000507574.1:p.Met432Ile
ENST00000682895.1:n.1012G>C
ENST00000682955.1:n.584G>C
ENST00000683188.1:c.1271G>C
ENST00000683328.1:c.289G>C	ENSP00000508096.1:n.289G>C
ENST00000683380.1:n.960G>C
ENST00000683828.1:c.1005G>C
ENST00000684259.1:n.1147G>C
ENST00000684444.1:c.43G>C
ENST00000684549.1:n.847G>C
ENST00000261534.9:c.1296G>C MANE Select	ENSP00000261534.4:p.Met432Ile
ENST00000261534.8:c.1296G>C	ENSP00000261534.4:p.Met432Ile
ENST00000452340.7:n.1319G>C
ENST00000553880.5:n.167G>C
ENST00000554767.5:n.2082G>C
ENST00000554884.5:n.288G>C
ENST00000556404.1:n.430G>C
ENST00000556851.1:n.332G>C
ENST00000557675.5:n.386G>C
NM_013382.5:c.1296G>C , LRG_844t1:c.1296G>C	NP_037514.2:p.Met432Ile
XM_011536675.1:c.1296G>C	XP_011534977.1:p.Met432Ile
XM_011536676.1:c.963G>C	XP_011534978.1:p.Met321Ile
XM_011536677.1:c.837G>C	XP_011534979.1:p.Met279Ile
XM_011536678.1:c.1296G>C	XP_011534980.1:p.Met432Ile
XM_011536679.1:c.390G>C	XP_011534981.1:p.Met130Ile
XR_943416.1:n.1499G>C
XM_011536675.2:c.1296G>C	XP_011534977.1:p.Met432Ile
XM_011536676.2:c.963G>C	XP_011534978.1:p.Met321Ile
XM_011536677.3:c.837G>C	XP_011534979.1:p.Met279Ile
XR_001750279.1:n.1496G>C
XR_001750282.1:n.1949G>C
XR_943416.3:n.1497G>C
NM_013382.6:c.1296G>C	NP_037514.2:p.Met432Ile
NM_013382.7:c.1296G>C MANE Select	NP_037514.2:p.Met432Ile