Canonical Allele Identifier: CA390513850

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745108A>G (hg19) ; chr14:g.77278765A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278765A>G , CM000676.2:g.77278765A>G	GRCh38
NC_000014.8:g.77745108A>G , CM000676.1:g.77745108A>G	GRCh37
NC_000014.7:g.76814861A>G	NCBI36
NG_008897.1:g.47118T>C , LRG_844:g.47118T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.921T>C
ENST00000556394.2:c.1537T>C	ENSP00000451967.2:p.Tyr513His
ENST00000682128.1:c.297T>C	ENSP00000506976.1:n.297T>C
ENST00000682247.1:c.1985T>C	ENSP00000507213.1:p.Leu662Pro
ENST00000682395.1:n.2460T>C
ENST00000682459.1:n.1699T>C
ENST00000682467.1:c.1892-257T>C	ENSP00000508062.1:n.1892-257T>C
ENST00000682615.1:n.350T>C
ENST00000682795.1:c.2143T>C	ENSP00000507574.1:p.Tyr715His
ENST00000682895.1:n.1712T>C
ENST00000682955.1:n.1570T>C
ENST00000683095.1:c.402T>C	ENSP00000508040.1:n.402T>C
ENST00000683188.1:c.2257T>C
ENST00000683380.1:n.1660T>C
ENST00000683907.1:c.261T>C	ENSP00000507754.1:n.261T>C
ENST00000684172.1:c.372T>C	ENSP00000508391.1:n.372T>C
ENST00000684259.1:n.3763T>C
ENST00000684538.1:n.1375T>C
ENST00000684549.1:n.1547T>C
ENST00000261534.9:c.1996T>C MANE Select	ENSP00000261534.4:p.Tyr666His
ENST00000261534.8:c.1996T>C	ENSP00000261534.4:p.Tyr666His
ENST00000452340.7:n.2972T>C
ENST00000554767.5:n.2782T>C
ENST00000555710.1:c.357T>C	ENSP00000451730.1:n.357T>C
ENST00000556394.1:c.88-257T>C
ENST00000556446.1:n.297T>C
ENST00000602717.5:c.211T>C	ENSP00000487704.1:p.Tyr71His
NM_013382.5:c.1996T>C , LRG_844t1:c.1996T>C	NP_037514.2:p.Tyr666His
XM_011536675.1:c.2185T>C	XP_011534977.1:p.Tyr729His
XM_011536676.1:c.1852T>C	XP_011534978.1:p.Tyr618His
XM_011536677.1:c.1726T>C	XP_011534979.1:p.Tyr576His
XM_011536679.1:c.1279T>C	XP_011534981.1:p.Tyr427His
XR_943416.1:n.2249T>C
XM_011536675.2:c.2185T>C	XP_011534977.1:p.Tyr729His
XM_011536676.2:c.1852T>C	XP_011534978.1:p.Tyr618His
XM_011536677.3:c.1726T>C	XP_011534979.1:p.Tyr576His
XR_001750279.1:n.2282T>C
XR_001750282.1:n.2935T>C
XR_943416.3:n.2247T>C
NM_013382.6:c.1996T>C	NP_037514.2:p.Tyr666His
NM_013382.7:c.1996T>C MANE Select	NP_037514.2:p.Tyr666His