Canonical Allele Identifier: CA390514018

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745150A>C (hg19) ; chr14:g.77278807A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278807A>C , CM000676.2:g.77278807A>C	GRCh38
NC_000014.8:g.77745150A>C , CM000676.1:g.77745150A>C	GRCh37
NC_000014.7:g.76814903A>C	NCBI36
NG_008897.1:g.47076T>G , LRG_844:g.47076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.879T>G
ENST00000556394.2:c.1495T>G	ENSP00000451967.2:p.Phe499Val
ENST00000682128.1:c.255T>G	ENSP00000506976.1:n.255T>G
ENST00000682247.1:c.1943T>G	ENSP00000507213.1:p.Leu648Arg
ENST00000682395.1:n.2418T>G
ENST00000682459.1:n.1657T>G
ENST00000682467.1:c.1892-299T>G	ENSP00000508062.1:n.1892-299T>G
ENST00000682615.1:n.308T>G
ENST00000682795.1:c.2101T>G	ENSP00000507574.1:p.Phe701Val
ENST00000682895.1:n.1670T>G
ENST00000682955.1:n.1528T>G
ENST00000683095.1:c.360T>G	ENSP00000508040.1:n.360T>G
ENST00000683188.1:c.2215T>G
ENST00000683380.1:n.1618T>G
ENST00000683828.1:c.1663T>G
ENST00000683907.1:c.219T>G	ENSP00000507754.1:p.Thr73=
ENST00000684172.1:c.330T>G	ENSP00000508391.1:n.330T>G
ENST00000684259.1:n.3721T>G
ENST00000684538.1:n.1333T>G
ENST00000684549.1:n.1505T>G
ENST00000261534.9:c.1954T>G MANE Select	ENSP00000261534.4:p.Phe652Val
ENST00000261534.8:c.1954T>G	ENSP00000261534.4:p.Phe652Val
ENST00000452340.7:n.2930T>G
ENST00000554767.5:n.2740T>G
ENST00000555710.1:c.315T>G	ENSP00000451730.1:n.315T>G
ENST00000556171.1:c.546T>G
ENST00000556394.1:c.88-299T>G
ENST00000556446.1:n.255T>G
ENST00000602717.5:c.169T>G	ENSP00000487704.1:p.Phe57Val
NM_013382.5:c.1954T>G , LRG_844t1:c.1954T>G	NP_037514.2:p.Phe652Val
XM_011536675.1:c.2143T>G	XP_011534977.1:p.Phe715Val
XM_011536676.1:c.1810T>G	XP_011534978.1:p.Phe604Val
XM_011536677.1:c.1684T>G	XP_011534979.1:p.Phe562Val
XM_011536679.1:c.1237T>G	XP_011534981.1:p.Phe413Val
XR_943416.1:n.2207T>G
XM_011536675.2:c.2143T>G	XP_011534977.1:p.Phe715Val
XM_011536676.2:c.1810T>G	XP_011534978.1:p.Phe604Val
XM_011536677.3:c.1684T>G	XP_011534979.1:p.Phe562Val
XR_001750279.1:n.2240T>G
XR_001750282.1:n.2893T>G
XR_943416.3:n.2205T>G
NM_013382.6:c.1954T>G	NP_037514.2:p.Phe652Val
NM_013382.7:c.1954T>G MANE Select	NP_037514.2:p.Phe652Val