Canonical Allele Identifier: CA390513990

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745143A>G (hg19) ; chr14:g.77278800A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278800A>G , CM000676.2:g.77278800A>G	GRCh38
NC_000014.8:g.77745143A>G , CM000676.1:g.77745143A>G	GRCh37
NC_000014.7:g.76814896A>G	NCBI36
NG_008897.1:g.47083T>C , LRG_844:g.47083T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.886T>C
ENST00000556394.2:c.1502T>C	ENSP00000451967.2:p.Phe501Ser
ENST00000682128.1:c.262T>C	ENSP00000506976.1:n.262T>C
ENST00000682247.1:c.1950T>C	ENSP00000507213.1:p.Val650=
ENST00000682395.1:n.2425T>C
ENST00000682459.1:n.1664T>C
ENST00000682467.1:c.1892-292T>C	ENSP00000508062.1:n.1892-292T>C
ENST00000682615.1:n.315T>C
ENST00000682795.1:c.2108T>C	ENSP00000507574.1:p.Phe703Ser
ENST00000682895.1:n.1677T>C
ENST00000682955.1:n.1535T>C
ENST00000683095.1:c.367T>C	ENSP00000508040.1:n.367T>C
ENST00000683188.1:c.2222T>C
ENST00000683380.1:n.1625T>C
ENST00000683828.1:c.1670T>C
ENST00000683907.1:c.226T>C	ENSP00000507754.1:p.Phe76Leu
ENST00000684172.1:c.337T>C	ENSP00000508391.1:n.337T>C
ENST00000684259.1:n.3728T>C
ENST00000684538.1:n.1340T>C
ENST00000684549.1:n.1512T>C
ENST00000261534.9:c.1961T>C MANE Select	ENSP00000261534.4:p.Phe654Ser
ENST00000261534.8:c.1961T>C	ENSP00000261534.4:p.Phe654Ser
ENST00000452340.7:n.2937T>C
ENST00000554767.5:n.2747T>C
ENST00000555710.1:c.322T>C	ENSP00000451730.1:n.322T>C
ENST00000556171.1:c.553T>C
ENST00000556394.1:c.88-292T>C
ENST00000556446.1:n.262T>C
ENST00000602717.5:c.176T>C	ENSP00000487704.1:p.Phe59Ser
NM_013382.5:c.1961T>C , LRG_844t1:c.1961T>C	NP_037514.2:p.Phe654Ser
XM_011536675.1:c.2150T>C	XP_011534977.1:p.Phe717Ser
XM_011536676.1:c.1817T>C	XP_011534978.1:p.Phe606Ser
XM_011536677.1:c.1691T>C	XP_011534979.1:p.Phe564Ser
XM_011536679.1:c.1244T>C	XP_011534981.1:p.Phe415Ser
XR_943416.1:n.2214T>C
XM_011536675.2:c.2150T>C	XP_011534977.1:p.Phe717Ser
XM_011536676.2:c.1817T>C	XP_011534978.1:p.Phe606Ser
XM_011536677.3:c.1691T>C	XP_011534979.1:p.Phe564Ser
XR_001750279.1:n.2247T>C
XR_001750282.1:n.2900T>C
XR_943416.3:n.2212T>C
NM_013382.6:c.1961T>C	NP_037514.2:p.Phe654Ser
NM_013382.7:c.1961T>C MANE Select	NP_037514.2:p.Phe654Ser