Canonical Allele Identifier: CA390513816

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745102G>A (hg19) ; chr14:g.77278759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278759G>A , CM000676.2:g.77278759G>A	GRCh38
NC_000014.8:g.77745102G>A , CM000676.1:g.77745102G>A	GRCh37
NC_000014.7:g.76814855G>A	NCBI36
NG_008897.1:g.47124C>T , LRG_844:g.47124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.927C>T
ENST00000556394.2:c.1543C>T	ENSP00000451967.2:p.Pro515Ser
ENST00000682128.1:c.303C>T	ENSP00000506976.1:n.303C>T
ENST00000682247.1:c.1991C>T	ENSP00000507213.1:p.Pro664Leu
ENST00000682395.1:n.2466C>T
ENST00000682459.1:n.1705C>T
ENST00000682467.1:c.1892-251C>T	ENSP00000508062.1:n.1892-251C>T
ENST00000682615.1:n.356C>T
ENST00000682795.1:c.2149C>T	ENSP00000507574.1:p.Pro717Ser
ENST00000682895.1:n.1718C>T
ENST00000682955.1:n.1576C>T
ENST00000683095.1:c.408C>T	ENSP00000508040.1:n.408C>T
ENST00000683188.1:c.2263C>T
ENST00000683380.1:n.1666C>T
ENST00000683907.1:c.267C>T	ENSP00000507754.1:n.267C>T
ENST00000684172.1:c.378C>T	ENSP00000508391.1:n.378C>T
ENST00000684259.1:n.3769C>T
ENST00000684538.1:n.1381C>T
ENST00000684549.1:n.1553C>T
ENST00000261534.9:c.2002C>T MANE Select	ENSP00000261534.4:p.Pro668Ser
ENST00000261534.8:c.2002C>T	ENSP00000261534.4:p.Pro668Ser
ENST00000452340.7:n.2978C>T
ENST00000554767.5:n.2788C>T
ENST00000555710.1:c.363C>T	ENSP00000451730.1:n.363C>T
ENST00000556394.1:c.88-251C>T
ENST00000556446.1:n.303C>T
ENST00000602717.5:c.217C>T	ENSP00000487704.1:p.Pro73Ser
NM_013382.5:c.2002C>T , LRG_844t1:c.2002C>T	NP_037514.2:p.Pro668Ser
XM_011536675.1:c.2191C>T	XP_011534977.1:p.Pro731Ser
XM_011536676.1:c.1858C>T	XP_011534978.1:p.Pro620Ser
XM_011536677.1:c.1732C>T	XP_011534979.1:p.Pro578Ser
XM_011536679.1:c.1285C>T	XP_011534981.1:p.Pro429Ser
XR_943416.1:n.2255C>T
XM_011536675.2:c.2191C>T	XP_011534977.1:p.Pro731Ser
XM_011536676.2:c.1858C>T	XP_011534978.1:p.Pro620Ser
XM_011536677.3:c.1732C>T	XP_011534979.1:p.Pro578Ser
XR_001750279.1:n.2288C>T
XR_001750282.1:n.2941C>T
XR_943416.3:n.2253C>T
NM_013382.6:c.2002C>T	NP_037514.2:p.Pro668Ser
NM_013382.7:c.2002C>T MANE Select	NP_037514.2:p.Pro668Ser