Canonical Allele Identifier: CA390513686

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744848A>G (hg19) ; chr14:g.77278505A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278505A>G , CM000676.2:g.77278505A>G	GRCh38
NC_000014.8:g.77744848A>G , CM000676.1:g.77744848A>G	GRCh37
NC_000014.7:g.76814601A>G	NCBI36
NG_008897.1:g.47378T>C , LRG_844:g.47378T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.961T>C
ENST00000556394.2:c.1577T>C	ENSP00000451967.2:p.Ile526Thr
ENST00000682247.1:c.2025T>C	ENSP00000507213.1:p.His675=
ENST00000682395.1:n.2500T>C
ENST00000682459.1:n.1739T>C
ENST00000682467.1:c.1895T>C	ENSP00000508062.1:p.Ile632Thr
ENST00000682795.1:c.2183T>C	ENSP00000507574.1:p.Ile728Thr
ENST00000682895.1:n.1752T>C
ENST00000682955.1:n.1610T>C
ENST00000683188.1:c.2297T>C
ENST00000683380.1:n.1700T>C
ENST00000683907.1:c.301T>C	ENSP00000507754.1:n.301T>C
ENST00000684259.1:n.3803T>C
ENST00000684538.1:n.1415T>C
ENST00000684549.1:n.1587T>C
ENST00000261534.9:c.2036T>C MANE Select	ENSP00000261534.4:p.Ile679Thr
ENST00000261534.8:c.2036T>C	ENSP00000261534.4:p.Ile679Thr
ENST00000452340.7:n.3012T>C
ENST00000554767.5:n.2822T>C
ENST00000555710.1:c.397T>C	ENSP00000451730.1:n.397T>C
ENST00000556394.1:c.91T>C
ENST00000556446.1:n.337T>C
ENST00000602717.5:c.251T>C	ENSP00000487704.1:p.Ile84Thr
NM_013382.5:c.2036T>C , LRG_844t1:c.2036T>C	NP_037514.2:p.Ile679Thr
XM_011536675.1:c.2225T>C	XP_011534977.1:p.Ile742Thr
XM_011536676.1:c.1892T>C	XP_011534978.1:p.Ile631Thr
XM_011536677.1:c.1766T>C	XP_011534979.1:p.Ile589Thr
XM_011536679.1:c.1319T>C	XP_011534981.1:p.Ile440Thr
XR_943416.1:n.2289T>C
XM_011536675.2:c.2225T>C	XP_011534977.1:p.Ile742Thr
XM_011536676.2:c.1892T>C	XP_011534978.1:p.Ile631Thr
XM_011536677.3:c.1766T>C	XP_011534979.1:p.Ile589Thr
XR_001750279.1:n.2322T>C
XR_001750282.1:n.2975T>C
XR_943416.3:n.2287T>C
NM_013382.6:c.2036T>C	NP_037514.2:p.Ile679Thr
NM_013382.7:c.2036T>C MANE Select	NP_037514.2:p.Ile679Thr