Canonical Allele Identifier: CA390513976

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745140A>C (hg19) ; chr14:g.77278797A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278797A>C , CM000676.2:g.77278797A>C	GRCh38
NC_000014.8:g.77745140A>C , CM000676.1:g.77745140A>C	GRCh37
NC_000014.7:g.76814893A>C	NCBI36
NG_008897.1:g.47086T>G , LRG_844:g.47086T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.889T>G
ENST00000556394.2:c.1505T>G	ENSP00000451967.2:p.Phe502Cys
ENST00000682128.1:c.265T>G	ENSP00000506976.1:n.265T>G
ENST00000682247.1:c.1953T>G	ENSP00000507213.1:p.Phe651Leu
ENST00000682395.1:n.2428T>G
ENST00000682459.1:n.1667T>G
ENST00000682467.1:c.1892-289T>G	ENSP00000508062.1:n.1892-289T>G
ENST00000682615.1:n.318T>G
ENST00000682795.1:c.2111T>G	ENSP00000507574.1:p.Phe704Cys
ENST00000682895.1:n.1680T>G
ENST00000682955.1:n.1538T>G
ENST00000683095.1:c.370T>G	ENSP00000508040.1:n.370T>G
ENST00000683188.1:c.2225T>G
ENST00000683380.1:n.1628T>G
ENST00000683828.1:c.1673T>G
ENST00000683907.1:c.229T>G	ENSP00000507754.1:p.Ser77Ala
ENST00000684172.1:c.340T>G	ENSP00000508391.1:n.340T>G
ENST00000684259.1:n.3731T>G
ENST00000684538.1:n.1343T>G
ENST00000684549.1:n.1515T>G
ENST00000261534.9:c.1964T>G MANE Select	ENSP00000261534.4:p.Phe655Cys
ENST00000261534.8:c.1964T>G	ENSP00000261534.4:p.Phe655Cys
ENST00000452340.7:n.2940T>G
ENST00000554767.5:n.2750T>G
ENST00000555710.1:c.325T>G	ENSP00000451730.1:n.325T>G
ENST00000556171.1:c.556T>G
ENST00000556394.1:c.88-289T>G
ENST00000556446.1:n.265T>G
ENST00000602717.5:c.179T>G	ENSP00000487704.1:p.Phe60Cys
NM_013382.5:c.1964T>G , LRG_844t1:c.1964T>G	NP_037514.2:p.Phe655Cys
XM_011536675.1:c.2153T>G	XP_011534977.1:p.Phe718Cys
XM_011536676.1:c.1820T>G	XP_011534978.1:p.Phe607Cys
XM_011536677.1:c.1694T>G	XP_011534979.1:p.Phe565Cys
XM_011536679.1:c.1247T>G	XP_011534981.1:p.Phe416Cys
XR_943416.1:n.2217T>G
XM_011536675.2:c.2153T>G	XP_011534977.1:p.Phe718Cys
XM_011536676.2:c.1820T>G	XP_011534978.1:p.Phe607Cys
XM_011536677.3:c.1694T>G	XP_011534979.1:p.Phe565Cys
XR_001750279.1:n.2250T>G
XR_001750282.1:n.2903T>G
XR_943416.3:n.2215T>G
NM_013382.6:c.1964T>G	NP_037514.2:p.Phe655Cys
NM_013382.7:c.1964T>G MANE Select	NP_037514.2:p.Phe655Cys