Canonical Allele Identifier: CA390514049

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745156G>A (hg19) ; chr14:g.77278813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278813G>A , CM000676.2:g.77278813G>A	GRCh38
NC_000014.8:g.77745156G>A , CM000676.1:g.77745156G>A	GRCh37
NC_000014.7:g.76814909G>A	NCBI36
NG_008897.1:g.47070C>T , LRG_844:g.47070C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.873C>T
ENST00000556394.2:c.1489C>T	ENSP00000451967.2:p.His497Tyr
ENST00000682128.1:c.249C>T	ENSP00000506976.1:n.249C>T
ENST00000682247.1:c.1937C>T	ENSP00000507213.1:p.Pro646Leu
ENST00000682395.1:n.2412C>T
ENST00000682459.1:n.1651C>T
ENST00000682467.1:c.1892-305C>T	ENSP00000508062.1:n.1892-305C>T
ENST00000682615.1:n.302C>T
ENST00000682795.1:c.2095C>T	ENSP00000507574.1:p.His699Tyr
ENST00000682895.1:n.1664C>T
ENST00000682955.1:n.1522C>T
ENST00000683095.1:c.354C>T	ENSP00000508040.1:n.354C>T
ENST00000683188.1:c.2209C>T
ENST00000683380.1:n.1612C>T
ENST00000683828.1:c.1657C>T
ENST00000683907.1:c.213C>T	ENSP00000507754.1:p.Ser71=
ENST00000684172.1:c.324C>T	ENSP00000508391.1:n.324C>T
ENST00000684259.1:n.3715C>T
ENST00000684538.1:n.1327C>T
ENST00000684549.1:n.1499C>T
ENST00000261534.9:c.1948C>T MANE Select	ENSP00000261534.4:p.His650Tyr
ENST00000261534.8:c.1948C>T	ENSP00000261534.4:p.His650Tyr
ENST00000452340.7:n.2924C>T
ENST00000554767.5:n.2734C>T
ENST00000555134.1:n.873C>T
ENST00000555710.1:c.309C>T	ENSP00000451730.1:n.309C>T
ENST00000556171.1:c.540C>T
ENST00000556394.1:c.88-305C>T
ENST00000556446.1:n.249C>T
ENST00000602717.5:c.163C>T	ENSP00000487704.1:p.His55Tyr
NM_013382.5:c.1948C>T , LRG_844t1:c.1948C>T	NP_037514.2:p.His650Tyr
XM_011536675.1:c.2137C>T	XP_011534977.1:p.His713Tyr
XM_011536676.1:c.1804C>T	XP_011534978.1:p.His602Tyr
XM_011536677.1:c.1678C>T	XP_011534979.1:p.His560Tyr
XM_011536679.1:c.1231C>T	XP_011534981.1:p.His411Tyr
XR_943416.1:n.2201C>T
XM_011536675.2:c.2137C>T	XP_011534977.1:p.His713Tyr
XM_011536676.2:c.1804C>T	XP_011534978.1:p.His602Tyr
XM_011536677.3:c.1678C>T	XP_011534979.1:p.His560Tyr
XR_001750279.1:n.2234C>T
XR_001750282.1:n.2887C>T
XR_943416.3:n.2199C>T
NM_013382.6:c.1948C>T	NP_037514.2:p.His650Tyr
NM_013382.7:c.1948C>T MANE Select	NP_037514.2:p.His650Tyr