Canonical Allele Identifier: CA390514019

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.879T>C
ENST00000556394.2:c.1495T>C	ENSP00000451967.2:p.Phe499Leu
ENST00000682128.1:c.255T>C	ENSP00000506976.1:n.255T>C
ENST00000682247.1:c.1943T>C	ENSP00000507213.1:p.Leu648Pro
ENST00000682395.1:n.2418T>C
ENST00000682459.1:n.1657T>C
ENST00000682467.1:c.1892-299T>C	ENSP00000508062.1:n.1892-299T>C
ENST00000682615.1:n.308T>C
ENST00000682795.1:c.2101T>C	ENSP00000507574.1:p.Phe701Leu
ENST00000682895.1:n.1670T>C
ENST00000682955.1:n.1528T>C
ENST00000683095.1:c.360T>C	ENSP00000508040.1:n.360T>C
ENST00000683188.1:c.2215T>C
ENST00000683380.1:n.1618T>C
ENST00000683828.1:c.1663T>C
ENST00000683907.1:c.219T>C	ENSP00000507754.1:p.Thr73=
ENST00000684172.1:c.330T>C	ENSP00000508391.1:n.330T>C
ENST00000684259.1:n.3721T>C
ENST00000684538.1:n.1333T>C
ENST00000684549.1:n.1505T>C
ENST00000261534.9:c.1954T>C MANE Select	ENSP00000261534.4:p.Phe652Leu
ENST00000261534.8:c.1954T>C	ENSP00000261534.4:p.Phe652Leu
ENST00000452340.7:n.2930T>C
ENST00000554767.5:n.2740T>C
ENST00000555710.1:c.315T>C	ENSP00000451730.1:n.315T>C
ENST00000556171.1:c.546T>C
ENST00000556394.1:c.88-299T>C
ENST00000556446.1:n.255T>C
ENST00000602717.5:c.169T>C	ENSP00000487704.1:p.Phe57Leu
NM_013382.5:c.1954T>C , LRG_844t1:c.1954T>C	NP_037514.2:p.Phe652Leu
XM_011536675.1:c.2143T>C	XP_011534977.1:p.Phe715Leu
XM_011536676.1:c.1810T>C	XP_011534978.1:p.Phe604Leu
XM_011536677.1:c.1684T>C	XP_011534979.1:p.Phe562Leu
XM_011536679.1:c.1237T>C	XP_011534981.1:p.Phe413Leu
XR_943416.1:n.2207T>C
XM_011536675.2:c.2143T>C	XP_011534977.1:p.Phe715Leu
XM_011536676.2:c.1810T>C	XP_011534978.1:p.Phe604Leu
XM_011536677.3:c.1684T>C	XP_011534979.1:p.Phe562Leu
XR_001750279.1:n.2240T>C
XR_001750282.1:n.2893T>C
XR_943416.3:n.2205T>C
NM_013382.6:c.1954T>C	NP_037514.2:p.Phe652Leu
NM_013382.7:c.1954T>C MANE Select	NP_037514.2:p.Phe652Leu