Canonical Allele Identifier: CA390513925

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745125A>C (hg19) ; chr14:g.77278782A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278782A>C , CM000676.2:g.77278782A>C	GRCh38
NC_000014.8:g.77745125A>C , CM000676.1:g.77745125A>C	GRCh37
NC_000014.7:g.76814878A>C	NCBI36
NG_008897.1:g.47101T>G , LRG_844:g.47101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.904T>G
ENST00000556394.2:c.1520T>G	ENSP00000451967.2:p.Val507Gly
ENST00000682128.1:c.280T>G	ENSP00000506976.1:n.280T>G
ENST00000682247.1:c.1968T>G	ENSP00000507213.1:p.Gly656=
ENST00000682395.1:n.2443T>G
ENST00000682459.1:n.1682T>G
ENST00000682467.1:c.1892-274T>G	ENSP00000508062.1:n.1892-274T>G
ENST00000682615.1:n.333T>G
ENST00000682795.1:c.2126T>G	ENSP00000507574.1:p.Val709Gly
ENST00000682895.1:n.1695T>G
ENST00000682955.1:n.1553T>G
ENST00000683095.1:c.385T>G	ENSP00000508040.1:n.385T>G
ENST00000683188.1:c.2240T>G
ENST00000683380.1:n.1643T>G
ENST00000683907.1:c.244T>G	ENSP00000507754.1:n.244T>G
ENST00000684172.1:c.355T>G	ENSP00000508391.1:n.355T>G
ENST00000684259.1:n.3746T>G
ENST00000684538.1:n.1358T>G
ENST00000684549.1:n.1530T>G
ENST00000261534.9:c.1979T>G MANE Select	ENSP00000261534.4:p.Val660Gly
ENST00000261534.8:c.1979T>G	ENSP00000261534.4:p.Val660Gly
ENST00000452340.7:n.2955T>G
ENST00000554767.5:n.2765T>G
ENST00000555710.1:c.340T>G	ENSP00000451730.1:n.340T>G
ENST00000556171.1:c.571T>G
ENST00000556394.1:c.88-274T>G
ENST00000556446.1:n.280T>G
ENST00000602717.5:c.194T>G	ENSP00000487704.1:p.Val65Gly
NM_013382.5:c.1979T>G , LRG_844t1:c.1979T>G	NP_037514.2:p.Val660Gly
XM_011536675.1:c.2168T>G	XP_011534977.1:p.Val723Gly
XM_011536676.1:c.1835T>G	XP_011534978.1:p.Val612Gly
XM_011536677.1:c.1709T>G	XP_011534979.1:p.Val570Gly
XM_011536679.1:c.1262T>G	XP_011534981.1:p.Val421Gly
XR_943416.1:n.2232T>G
XM_011536675.2:c.2168T>G	XP_011534977.1:p.Val723Gly
XM_011536676.2:c.1835T>G	XP_011534978.1:p.Val612Gly
XM_011536677.3:c.1709T>G	XP_011534979.1:p.Val570Gly
XR_001750279.1:n.2265T>G
XR_001750282.1:n.2918T>G
XR_943416.3:n.2230T>G
NM_013382.6:c.1979T>G	NP_037514.2:p.Val660Gly
NM_013382.7:c.1979T>G MANE Select	NP_037514.2:p.Val660Gly