Canonical Allele Identifier: CA390517772

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753150C>G (hg19) ; chr14:g.77286807C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286807C>G , CM000676.2:g.77286807C>G	GRCh38
NC_000014.8:g.77753150C>G , CM000676.1:g.77753150C>G	GRCh37
NC_000014.7:g.76822903C>G	NCBI36
NG_008897.1:g.39076G>C , LRG_844:g.39076G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.810G>C	ENSP00000451967.2:p.Leu270Phe
ENST00000682247.1:c.1269G>C	ENSP00000507213.1:p.Leu423Phe
ENST00000682382.1:c.841G>C
ENST00000682395.1:n.1447G>C
ENST00000682459.1:n.972G>C
ENST00000682467.1:c.1269G>C	ENSP00000508062.1:p.Leu423Phe
ENST00000682706.1:n.46G>C
ENST00000682795.1:c.1269G>C	ENSP00000507574.1:p.Leu423Phe
ENST00000682895.1:n.985G>C
ENST00000682955.1:n.557G>C
ENST00000683188.1:c.1244G>C
ENST00000683328.1:c.262G>C	ENSP00000508096.1:n.262G>C
ENST00000683380.1:n.933G>C
ENST00000683828.1:c.978G>C
ENST00000684259.1:n.1120G>C
ENST00000684444.1:c.16G>C
ENST00000684549.1:n.820G>C
ENST00000261534.9:c.1269G>C MANE Select	ENSP00000261534.4:p.Leu423Phe
ENST00000261534.8:c.1269G>C	ENSP00000261534.4:p.Leu423Phe
ENST00000452340.7:n.1292G>C
ENST00000553880.5:n.140G>C
ENST00000554767.5:n.2055G>C
ENST00000554884.5:n.261G>C
ENST00000556404.1:n.403G>C
ENST00000556851.1:n.305G>C
ENST00000557675.5:n.359G>C
NM_013382.5:c.1269G>C , LRG_844t1:c.1269G>C	NP_037514.2:p.Leu423Phe
XM_011536675.1:c.1269G>C	XP_011534977.1:p.Leu423Phe
XM_011536676.1:c.936G>C	XP_011534978.1:p.Leu312Phe
XM_011536677.1:c.810G>C	XP_011534979.1:p.Leu270Phe
XM_011536678.1:c.1269G>C	XP_011534980.1:p.Leu423Phe
XM_011536679.1:c.363G>C	XP_011534981.1:p.Leu121Phe
XR_943416.1:n.1472G>C
XM_011536675.2:c.1269G>C	XP_011534977.1:p.Leu423Phe
XM_011536676.2:c.936G>C	XP_011534978.1:p.Leu312Phe
XM_011536677.3:c.810G>C	XP_011534979.1:p.Leu270Phe
XR_001750279.1:n.1469G>C
XR_001750282.1:n.1922G>C
XR_943416.3:n.1470G>C
NM_013382.6:c.1269G>C	NP_037514.2:p.Leu423Phe
NM_013382.7:c.1269G>C MANE Select	NP_037514.2:p.Leu423Phe