Canonical Allele Identifier: CA390514090

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745165A>G (hg19) ; chr14:g.77278822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278822A>G , CM000676.2:g.77278822A>G	GRCh38
NC_000014.8:g.77745165A>G , CM000676.1:g.77745165A>G	GRCh37
NC_000014.7:g.76814918A>G	NCBI36
NG_008897.1:g.47061T>C , LRG_844:g.47061T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.864T>C
ENST00000556394.2:c.1480T>C	ENSP00000451967.2:p.Trp494Arg
ENST00000682128.1:c.240T>C	ENSP00000506976.1:n.240T>C
ENST00000682247.1:c.1928T>C	ENSP00000507213.1:p.Leu643Pro
ENST00000682395.1:n.2403T>C
ENST00000682459.1:n.1642T>C
ENST00000682467.1:c.1892-314T>C	ENSP00000508062.1:n.1892-314T>C
ENST00000682615.1:n.293T>C
ENST00000682795.1:c.2086T>C	ENSP00000507574.1:p.Trp696Arg
ENST00000682895.1:n.1655T>C
ENST00000682955.1:n.1513T>C
ENST00000683095.1:c.345T>C	ENSP00000508040.1:n.345T>C
ENST00000683188.1:c.2200T>C
ENST00000683380.1:n.1603T>C
ENST00000683828.1:c.1648T>C
ENST00000683907.1:c.204T>C	ENSP00000507754.1:p.Ala68=
ENST00000684172.1:c.315T>C	ENSP00000508391.1:n.315T>C
ENST00000684259.1:n.3706T>C
ENST00000684538.1:n.1318T>C
ENST00000684549.1:n.1490T>C
ENST00000261534.9:c.1939T>C MANE Select	ENSP00000261534.4:p.Trp647Arg
ENST00000261534.8:c.1939T>C	ENSP00000261534.4:p.Trp647Arg
ENST00000452340.7:n.2915T>C
ENST00000554767.5:n.2725T>C
ENST00000555134.1:n.864T>C
ENST00000555710.1:c.300T>C	ENSP00000451730.1:n.300T>C
ENST00000556171.1:c.531T>C
ENST00000556394.1:c.88-314T>C
ENST00000556446.1:n.240T>C
ENST00000602717.5:c.154T>C	ENSP00000487704.1:p.Trp52Arg
NM_013382.5:c.1939T>C , LRG_844t1:c.1939T>C	NP_037514.2:p.Trp647Arg
XM_011536675.1:c.2128T>C	XP_011534977.1:p.Trp710Arg
XM_011536676.1:c.1795T>C	XP_011534978.1:p.Trp599Arg
XM_011536677.1:c.1669T>C	XP_011534979.1:p.Trp557Arg
XM_011536679.1:c.1222T>C	XP_011534981.1:p.Trp408Arg
XR_943416.1:n.2192T>C
XM_011536675.2:c.2128T>C	XP_011534977.1:p.Trp710Arg
XM_011536676.2:c.1795T>C	XP_011534978.1:p.Trp599Arg
XM_011536677.3:c.1669T>C	XP_011534979.1:p.Trp557Arg
XR_001750279.1:n.2225T>C
XR_001750282.1:n.2878T>C
XR_943416.3:n.2190T>C
NM_013382.6:c.1939T>C	NP_037514.2:p.Trp647Arg
NM_013382.7:c.1939T>C MANE Select	NP_037514.2:p.Trp647Arg