Canonical Allele Identifier: CA390514009

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745147G>T (hg19) ; chr14:g.77278804G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278804G>T , CM000676.2:g.77278804G>T	GRCh38
NC_000014.8:g.77745147G>T , CM000676.1:g.77745147G>T	GRCh37
NC_000014.7:g.76814900G>T	NCBI36
NG_008897.1:g.47079C>A , LRG_844:g.47079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.882C>A
ENST00000556394.2:c.1498C>A	ENSP00000451967.2:p.Pro500Thr
ENST00000682128.1:c.258C>A	ENSP00000506976.1:n.258C>A
ENST00000682247.1:c.1946C>A	ENSP00000507213.1:p.Pro649His
ENST00000682395.1:n.2421C>A
ENST00000682459.1:n.1660C>A
ENST00000682467.1:c.1892-296C>A	ENSP00000508062.1:n.1892-296C>A
ENST00000682615.1:n.311C>A
ENST00000682795.1:c.2104C>A	ENSP00000507574.1:p.Pro702Thr
ENST00000682895.1:n.1673C>A
ENST00000682955.1:n.1531C>A
ENST00000683095.1:c.363C>A	ENSP00000508040.1:n.363C>A
ENST00000683188.1:c.2218C>A
ENST00000683380.1:n.1621C>A
ENST00000683828.1:c.1666C>A
ENST00000683907.1:c.222C>A	ENSP00000507754.1:p.Ser74=
ENST00000684172.1:c.333C>A	ENSP00000508391.1:n.333C>A
ENST00000684259.1:n.3724C>A
ENST00000684538.1:n.1336C>A
ENST00000684549.1:n.1508C>A
ENST00000261534.9:c.1957C>A MANE Select	ENSP00000261534.4:p.Pro653Thr
ENST00000261534.8:c.1957C>A	ENSP00000261534.4:p.Pro653Thr
ENST00000452340.7:n.2933C>A
ENST00000554767.5:n.2743C>A
ENST00000555710.1:c.318C>A	ENSP00000451730.1:n.318C>A
ENST00000556171.1:c.549C>A
ENST00000556394.1:c.88-296C>A
ENST00000556446.1:n.258C>A
ENST00000602717.5:c.172C>A	ENSP00000487704.1:p.Pro58Thr
NM_013382.5:c.1957C>A , LRG_844t1:c.1957C>A	NP_037514.2:p.Pro653Thr
XM_011536675.1:c.2146C>A	XP_011534977.1:p.Pro716Thr
XM_011536676.1:c.1813C>A	XP_011534978.1:p.Pro605Thr
XM_011536677.1:c.1687C>A	XP_011534979.1:p.Pro563Thr
XM_011536679.1:c.1240C>A	XP_011534981.1:p.Pro414Thr
XR_943416.1:n.2210C>A
XM_011536675.2:c.2146C>A	XP_011534977.1:p.Pro716Thr
XM_011536676.2:c.1813C>A	XP_011534978.1:p.Pro605Thr
XM_011536677.3:c.1687C>A	XP_011534979.1:p.Pro563Thr
XR_001750279.1:n.2243C>A
XR_001750282.1:n.2896C>A
XR_943416.3:n.2208C>A
NM_013382.6:c.1957C>A	NP_037514.2:p.Pro653Thr
NM_013382.7:c.1957C>A MANE Select	NP_037514.2:p.Pro653Thr