Canonical Allele Identifier: CA487509212

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745078A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278735A>G , CM000676.2:g.77278735A>G	GRCh38
NC_000014.8:g.77745078A>G , CM000676.1:g.77745078A>G	GRCh37
NC_000014.7:g.76814831A>G	NCBI36
NG_008897.1:g.47148T>C , LRG_844:g.47148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.951T>C
ENST00000556394.2:c.1567T>C	ENSP00000451967.2:p.Leu523=
ENST00000682128.1:c.327T>C	ENSP00000506976.1:n.327T>C
ENST00000682247.1:c.2015T>C	ENSP00000507213.1:p.Val672Ala
ENST00000682395.1:n.2490T>C
ENST00000682459.1:n.1729T>C
ENST00000682467.1:c.1892-227T>C	ENSP00000508062.1:n.1892-227T>C
ENST00000682615.1:n.380T>C
ENST00000682795.1:c.2173T>C	ENSP00000507574.1:p.Leu725=
ENST00000682895.1:n.1742T>C
ENST00000682955.1:n.1600T>C
ENST00000683095.1:c.432T>C	ENSP00000508040.1:n.432T>C
ENST00000683188.1:c.2287T>C
ENST00000683380.1:n.1690T>C
ENST00000683907.1:c.291T>C	ENSP00000507754.1:n.291T>C
ENST00000684172.1:c.402T>C	ENSP00000508391.1:n.402T>C
ENST00000684259.1:n.3793T>C
ENST00000684538.1:n.1405T>C
ENST00000684549.1:n.1577T>C
ENST00000261534.9:c.2026T>C MANE Select	ENSP00000261534.4:p.Leu676=
ENST00000261534.8:c.2026T>C	ENSP00000261534.4:p.Leu676=
ENST00000452340.7:n.3002T>C
ENST00000554767.5:n.2812T>C
ENST00000555710.1:c.387T>C	ENSP00000451730.1:n.387T>C
ENST00000556394.1:c.88-227T>C
ENST00000556446.1:n.327T>C
ENST00000602717.5:c.241T>C	ENSP00000487704.1:p.Leu81=
NM_013382.5:c.2026T>C , LRG_844t1:c.2026T>C	NP_037514.2:p.Leu676=
XM_011536675.1:c.2215T>C	XP_011534977.1:p.Leu739=
XM_011536676.1:c.1882T>C	XP_011534978.1:p.Leu628=
XM_011536677.1:c.1756T>C	XP_011534979.1:p.Leu586=
XM_011536679.1:c.1309T>C	XP_011534981.1:p.Leu437=
XR_943416.1:n.2279T>C
XM_011536675.2:c.2215T>C	XP_011534977.1:p.Leu739=
XM_011536676.2:c.1882T>C	XP_011534978.1:p.Leu628=
XM_011536677.3:c.1756T>C	XP_011534979.1:p.Leu586=
XR_001750279.1:n.2312T>C
XR_001750282.1:n.2965T>C
XR_943416.3:n.2277T>C
NM_013382.6:c.2026T>C	NP_037514.2:p.Leu676=
NM_013382.7:c.2026T>C MANE Select	NP_037514.2:p.Leu676=