Canonical Allele Identifier: CA390517771

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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