Canonical Allele Identifier: CA390513843

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745107T>A (hg19) ; chr14:g.77278764T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278764T>A , CM000676.2:g.77278764T>A	GRCh38
NC_000014.8:g.77745107T>A , CM000676.1:g.77745107T>A	GRCh37
NC_000014.7:g.76814860T>A	NCBI36
NG_008897.1:g.47119A>T , LRG_844:g.47119A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.922A>T
ENST00000556394.2:c.1538A>T	ENSP00000451967.2:p.Tyr513Phe
ENST00000682128.1:c.298A>T	ENSP00000506976.1:n.298A>T
ENST00000682247.1:c.1986A>T	ENSP00000507213.1:p.Leu662=
ENST00000682395.1:n.2461A>T
ENST00000682459.1:n.1700A>T
ENST00000682467.1:c.1892-256A>T	ENSP00000508062.1:n.1892-256A>T
ENST00000682615.1:n.351A>T
ENST00000682795.1:c.2144A>T	ENSP00000507574.1:p.Tyr715Phe
ENST00000682895.1:n.1713A>T
ENST00000682955.1:n.1571A>T
ENST00000683095.1:c.403A>T	ENSP00000508040.1:n.403A>T
ENST00000683188.1:c.2258A>T
ENST00000683380.1:n.1661A>T
ENST00000683907.1:c.262A>T	ENSP00000507754.1:n.262A>T
ENST00000684172.1:c.373A>T	ENSP00000508391.1:n.373A>T
ENST00000684259.1:n.3764A>T
ENST00000684538.1:n.1376A>T
ENST00000684549.1:n.1548A>T
ENST00000261534.9:c.1997A>T MANE Select	ENSP00000261534.4:p.Tyr666Phe
ENST00000261534.8:c.1997A>T	ENSP00000261534.4:p.Tyr666Phe
ENST00000452340.7:n.2973A>T
ENST00000554767.5:n.2783A>T
ENST00000555710.1:c.358A>T	ENSP00000451730.1:n.358A>T
ENST00000556394.1:c.88-256A>T
ENST00000556446.1:n.298A>T
ENST00000602717.5:c.212A>T	ENSP00000487704.1:p.Tyr71Phe
NM_013382.5:c.1997A>T , LRG_844t1:c.1997A>T	NP_037514.2:p.Tyr666Phe
XM_011536675.1:c.2186A>T	XP_011534977.1:p.Tyr729Phe
XM_011536676.1:c.1853A>T	XP_011534978.1:p.Tyr618Phe
XM_011536677.1:c.1727A>T	XP_011534979.1:p.Tyr576Phe
XM_011536679.1:c.1280A>T	XP_011534981.1:p.Tyr427Phe
XR_943416.1:n.2250A>T
XM_011536675.2:c.2186A>T	XP_011534977.1:p.Tyr729Phe
XM_011536676.2:c.1853A>T	XP_011534978.1:p.Tyr618Phe
XM_011536677.3:c.1727A>T	XP_011534979.1:p.Tyr576Phe
XR_001750279.1:n.2283A>T
XR_001750282.1:n.2936A>T
XR_943416.3:n.2248A>T
NM_013382.6:c.1997A>T	NP_037514.2:p.Tyr666Phe
NM_013382.7:c.1997A>T MANE Select	NP_037514.2:p.Tyr666Phe