Canonical Allele Identifier: CA390513745

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745084T>G (hg19) ; chr14:g.77278741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278741T>G , CM000676.2:g.77278741T>G	GRCh38
NC_000014.8:g.77745084T>G , CM000676.1:g.77745084T>G	GRCh37
NC_000014.7:g.76814837T>G	NCBI36
NG_008897.1:g.47142A>C , LRG_844:g.47142A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.945A>C
ENST00000556394.2:c.1561A>C	ENSP00000451967.2:p.Ser521Arg
ENST00000682128.1:c.321A>C	ENSP00000506976.1:n.321A>C
ENST00000682247.1:c.2009A>C	ENSP00000507213.1:p.Lys670Thr
ENST00000682395.1:n.2484A>C
ENST00000682459.1:n.1723A>C
ENST00000682467.1:c.1892-233A>C	ENSP00000508062.1:n.1892-233A>C
ENST00000682615.1:n.374A>C
ENST00000682795.1:c.2167A>C	ENSP00000507574.1:p.Ser723Arg
ENST00000682895.1:n.1736A>C
ENST00000682955.1:n.1594A>C
ENST00000683095.1:c.426A>C	ENSP00000508040.1:n.426A>C
ENST00000683188.1:c.2281A>C
ENST00000683380.1:n.1684A>C
ENST00000683907.1:c.285A>C	ENSP00000507754.1:n.285A>C
ENST00000684172.1:c.396A>C	ENSP00000508391.1:n.396A>C
ENST00000684259.1:n.3787A>C
ENST00000684538.1:n.1399A>C
ENST00000684549.1:n.1571A>C
ENST00000261534.9:c.2020A>C MANE Select	ENSP00000261534.4:p.Ser674Arg
ENST00000261534.8:c.2020A>C	ENSP00000261534.4:p.Ser674Arg
ENST00000452340.7:n.2996A>C
ENST00000554767.5:n.2806A>C
ENST00000555710.1:c.381A>C	ENSP00000451730.1:n.381A>C
ENST00000556394.1:c.88-233A>C
ENST00000556446.1:n.321A>C
ENST00000602717.5:c.235A>C	ENSP00000487704.1:p.Ser79Arg
NM_013382.5:c.2020A>C , LRG_844t1:c.2020A>C	NP_037514.2:p.Ser674Arg
XM_011536675.1:c.2209A>C	XP_011534977.1:p.Ser737Arg
XM_011536676.1:c.1876A>C	XP_011534978.1:p.Ser626Arg
XM_011536677.1:c.1750A>C	XP_011534979.1:p.Ser584Arg
XM_011536679.1:c.1303A>C	XP_011534981.1:p.Ser435Arg
XR_943416.1:n.2273A>C
XM_011536675.2:c.2209A>C	XP_011534977.1:p.Ser737Arg
XM_011536676.2:c.1876A>C	XP_011534978.1:p.Ser626Arg
XM_011536677.3:c.1750A>C	XP_011534979.1:p.Ser584Arg
XR_001750279.1:n.2306A>C
XR_001750282.1:n.2959A>C
XR_943416.3:n.2271A>C
NM_013382.6:c.2020A>C	NP_037514.2:p.Ser674Arg
NM_013382.7:c.2020A>C MANE Select	NP_037514.2:p.Ser674Arg