Canonical Allele Identifier: CA390514007

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.882C>T
ENST00000556394.2:c.1498C>T	ENSP00000451967.2:p.Pro500Ser
ENST00000682128.1:c.258C>T	ENSP00000506976.1:n.258C>T
ENST00000682247.1:c.1946C>T	ENSP00000507213.1:p.Pro649Leu
ENST00000682395.1:n.2421C>T
ENST00000682459.1:n.1660C>T
ENST00000682467.1:c.1892-296C>T	ENSP00000508062.1:n.1892-296C>T
ENST00000682615.1:n.311C>T
ENST00000682795.1:c.2104C>T	ENSP00000507574.1:p.Pro702Ser
ENST00000682895.1:n.1673C>T
ENST00000682955.1:n.1531C>T
ENST00000683095.1:c.363C>T	ENSP00000508040.1:n.363C>T
ENST00000683188.1:c.2218C>T
ENST00000683380.1:n.1621C>T
ENST00000683828.1:c.1666C>T
ENST00000683907.1:c.222C>T	ENSP00000507754.1:p.Ser74=
ENST00000684172.1:c.333C>T	ENSP00000508391.1:n.333C>T
ENST00000684259.1:n.3724C>T
ENST00000684538.1:n.1336C>T
ENST00000684549.1:n.1508C>T
ENST00000261534.9:c.1957C>T MANE Select	ENSP00000261534.4:p.Pro653Ser
ENST00000261534.8:c.1957C>T	ENSP00000261534.4:p.Pro653Ser
ENST00000452340.7:n.2933C>T
ENST00000554767.5:n.2743C>T
ENST00000555710.1:c.318C>T	ENSP00000451730.1:n.318C>T
ENST00000556171.1:c.549C>T
ENST00000556394.1:c.88-296C>T
ENST00000556446.1:n.258C>T
ENST00000602717.5:c.172C>T	ENSP00000487704.1:p.Pro58Ser
NM_013382.5:c.1957C>T , LRG_844t1:c.1957C>T	NP_037514.2:p.Pro653Ser
XM_011536675.1:c.2146C>T	XP_011534977.1:p.Pro716Ser
XM_011536676.1:c.1813C>T	XP_011534978.1:p.Pro605Ser
XM_011536677.1:c.1687C>T	XP_011534979.1:p.Pro563Ser
XM_011536679.1:c.1240C>T	XP_011534981.1:p.Pro414Ser
XR_943416.1:n.2210C>T
XM_011536675.2:c.2146C>T	XP_011534977.1:p.Pro716Ser
XM_011536676.2:c.1813C>T	XP_011534978.1:p.Pro605Ser
XM_011536677.3:c.1687C>T	XP_011534979.1:p.Pro563Ser
XR_001750279.1:n.2243C>T
XR_001750282.1:n.2896C>T
XR_943416.3:n.2208C>T
NM_013382.6:c.1957C>T	NP_037514.2:p.Pro653Ser
NM_013382.7:c.1957C>T MANE Select	NP_037514.2:p.Pro653Ser