Canonical Allele Identifier: CA390513879

Gene: POMT2

Linked Data

• dbSNP Id: rs1594883699
• MyVariant Identifiers: chr14:g.77745114G>A (hg19) ; chr14:g.77278771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278771G>A , CM000676.2:g.77278771G>A	GRCh38
NC_000014.8:g.77745114G>A , CM000676.1:g.77745114G>A	GRCh37
NC_000014.7:g.76814867G>A	NCBI36
NG_008897.1:g.47112C>T , LRG_844:g.47112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.915C>T
ENST00000556394.2:c.1531C>T	ENSP00000451967.2:p.His511Tyr
ENST00000682128.1:c.291C>T	ENSP00000506976.1:n.291C>T
ENST00000682247.1:c.1979C>T	ENSP00000507213.1:p.Pro660Leu
ENST00000682395.1:n.2454C>T
ENST00000682459.1:n.1693C>T
ENST00000682467.1:c.1892-263C>T	ENSP00000508062.1:n.1892-263C>T
ENST00000682615.1:n.344C>T
ENST00000682795.1:c.2137C>T	ENSP00000507574.1:p.His713Tyr
ENST00000682895.1:n.1706C>T
ENST00000682955.1:n.1564C>T
ENST00000683095.1:c.396C>T	ENSP00000508040.1:n.396C>T
ENST00000683188.1:c.2251C>T
ENST00000683380.1:n.1654C>T
ENST00000683907.1:c.255C>T	ENSP00000507754.1:n.255C>T
ENST00000684172.1:c.366C>T	ENSP00000508391.1:n.366C>T
ENST00000684259.1:n.3757C>T
ENST00000684538.1:n.1369C>T
ENST00000684549.1:n.1541C>T
ENST00000261534.9:c.1990C>T MANE Select	ENSP00000261534.4:p.His664Tyr
ENST00000261534.8:c.1990C>T	ENSP00000261534.4:p.His664Tyr
ENST00000452340.7:n.2966C>T
ENST00000554767.5:n.2776C>T
ENST00000555710.1:c.351C>T	ENSP00000451730.1:n.351C>T
ENST00000556394.1:c.88-263C>T
ENST00000556446.1:n.291C>T
ENST00000602717.5:c.205C>T	ENSP00000487704.1:p.His69Tyr
NM_013382.5:c.1990C>T , LRG_844t1:c.1990C>T	NP_037514.2:p.His664Tyr
XM_011536675.1:c.2179C>T	XP_011534977.1:p.His727Tyr
XM_011536676.1:c.1846C>T	XP_011534978.1:p.His616Tyr
XM_011536677.1:c.1720C>T	XP_011534979.1:p.His574Tyr
XM_011536679.1:c.1273C>T	XP_011534981.1:p.His425Tyr
XR_943416.1:n.2243C>T
XM_011536675.2:c.2179C>T	XP_011534977.1:p.His727Tyr
XM_011536676.2:c.1846C>T	XP_011534978.1:p.His616Tyr
XM_011536677.3:c.1720C>T	XP_011534979.1:p.His574Tyr
XR_001750279.1:n.2276C>T
XR_001750282.1:n.2929C>T
XR_943416.3:n.2241C>T
NM_013382.6:c.1990C>T	NP_037514.2:p.His664Tyr
NM_013382.7:c.1990C>T MANE Select	NP_037514.2:p.His664Tyr