Canonical Allele Identifier: CA390513803

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745099C>A (hg19) ; chr14:g.77278756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278756C>A , CM000676.2:g.77278756C>A	GRCh38
NC_000014.8:g.77745099C>A , CM000676.1:g.77745099C>A	GRCh37
NC_000014.7:g.76814852C>A	NCBI36
NG_008897.1:g.47127G>T , LRG_844:g.47127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.930G>T
ENST00000556394.2:c.1546G>T	ENSP00000451967.2:p.Ala516Ser
ENST00000682128.1:c.306G>T	ENSP00000506976.1:n.306G>T
ENST00000682247.1:c.1994G>T	ENSP00000507213.1:p.Ser665Ile
ENST00000682395.1:n.2469G>T
ENST00000682459.1:n.1708G>T
ENST00000682467.1:c.1892-248G>T	ENSP00000508062.1:n.1892-248G>T
ENST00000682615.1:n.359G>T
ENST00000682795.1:c.2152G>T	ENSP00000507574.1:p.Ala718Ser
ENST00000682895.1:n.1721G>T
ENST00000682955.1:n.1579G>T
ENST00000683095.1:c.411G>T	ENSP00000508040.1:n.411G>T
ENST00000683188.1:c.2266G>T
ENST00000683380.1:n.1669G>T
ENST00000683907.1:c.270G>T	ENSP00000507754.1:n.270G>T
ENST00000684172.1:c.381G>T	ENSP00000508391.1:n.381G>T
ENST00000684259.1:n.3772G>T
ENST00000684538.1:n.1384G>T
ENST00000684549.1:n.1556G>T
ENST00000261534.9:c.2005G>T MANE Select	ENSP00000261534.4:p.Ala669Ser
ENST00000261534.8:c.2005G>T	ENSP00000261534.4:p.Ala669Ser
ENST00000452340.7:n.2981G>T
ENST00000554767.5:n.2791G>T
ENST00000555710.1:c.366G>T	ENSP00000451730.1:n.366G>T
ENST00000556394.1:c.88-248G>T
ENST00000556446.1:n.306G>T
ENST00000602717.5:c.220G>T	ENSP00000487704.1:p.Ala74Ser
NM_013382.5:c.2005G>T , LRG_844t1:c.2005G>T	NP_037514.2:p.Ala669Ser
XM_011536675.1:c.2194G>T	XP_011534977.1:p.Ala732Ser
XM_011536676.1:c.1861G>T	XP_011534978.1:p.Ala621Ser
XM_011536677.1:c.1735G>T	XP_011534979.1:p.Ala579Ser
XM_011536679.1:c.1288G>T	XP_011534981.1:p.Ala430Ser
XR_943416.1:n.2258G>T
XM_011536675.2:c.2194G>T	XP_011534977.1:p.Ala732Ser
XM_011536676.2:c.1861G>T	XP_011534978.1:p.Ala621Ser
XM_011536677.3:c.1735G>T	XP_011534979.1:p.Ala579Ser
XR_001750279.1:n.2291G>T
XR_001750282.1:n.2944G>T
XR_943416.3:n.2256G>T
NM_013382.6:c.2005G>T	NP_037514.2:p.Ala669Ser
NM_013382.7:c.2005G>T MANE Select	NP_037514.2:p.Ala669Ser