Canonical Allele Identifier: CA390513927

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.904T>C
ENST00000556394.2:c.1520T>C	ENSP00000451967.2:p.Val507Ala
ENST00000682128.1:c.280T>C	ENSP00000506976.1:n.280T>C
ENST00000682247.1:c.1968T>C	ENSP00000507213.1:p.Gly656=
ENST00000682395.1:n.2443T>C
ENST00000682459.1:n.1682T>C
ENST00000682467.1:c.1892-274T>C	ENSP00000508062.1:n.1892-274T>C
ENST00000682615.1:n.333T>C
ENST00000682795.1:c.2126T>C	ENSP00000507574.1:p.Val709Ala
ENST00000682895.1:n.1695T>C
ENST00000682955.1:n.1553T>C
ENST00000683095.1:c.385T>C	ENSP00000508040.1:n.385T>C
ENST00000683188.1:c.2240T>C
ENST00000683380.1:n.1643T>C
ENST00000683907.1:c.244T>C	ENSP00000507754.1:n.244T>C
ENST00000684172.1:c.355T>C	ENSP00000508391.1:n.355T>C
ENST00000684259.1:n.3746T>C
ENST00000684538.1:n.1358T>C
ENST00000684549.1:n.1530T>C
ENST00000261534.9:c.1979T>C MANE Select	ENSP00000261534.4:p.Val660Ala
ENST00000261534.8:c.1979T>C	ENSP00000261534.4:p.Val660Ala
ENST00000452340.7:n.2955T>C
ENST00000554767.5:n.2765T>C
ENST00000555710.1:c.340T>C	ENSP00000451730.1:n.340T>C
ENST00000556171.1:c.571T>C
ENST00000556394.1:c.88-274T>C
ENST00000556446.1:n.280T>C
ENST00000602717.5:c.194T>C	ENSP00000487704.1:p.Val65Ala
NM_013382.5:c.1979T>C , LRG_844t1:c.1979T>C	NP_037514.2:p.Val660Ala
XM_011536675.1:c.2168T>C	XP_011534977.1:p.Val723Ala
XM_011536676.1:c.1835T>C	XP_011534978.1:p.Val612Ala
XM_011536677.1:c.1709T>C	XP_011534979.1:p.Val570Ala
XM_011536679.1:c.1262T>C	XP_011534981.1:p.Val421Ala
XR_943416.1:n.2232T>C
XM_011536675.2:c.2168T>C	XP_011534977.1:p.Val723Ala
XM_011536676.2:c.1835T>C	XP_011534978.1:p.Val612Ala
XM_011536677.3:c.1709T>C	XP_011534979.1:p.Val570Ala
XR_001750279.1:n.2265T>C
XR_001750282.1:n.2918T>C
XR_943416.3:n.2230T>C
NM_013382.6:c.1979T>C	NP_037514.2:p.Val660Ala
NM_013382.7:c.1979T>C MANE Select	NP_037514.2:p.Val660Ala