Canonical Allele Identifier: CA390513950

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745133C>G (hg19) ; chr14:g.77278790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278790C>G , CM000676.2:g.77278790C>G	GRCh38
NC_000014.8:g.77745133C>G , CM000676.1:g.77745133C>G	GRCh37
NC_000014.7:g.76814886C>G	NCBI36
NG_008897.1:g.47093G>C , LRG_844:g.47093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.896G>C
ENST00000556394.2:c.1512G>C	ENSP00000451967.2:p.Met504Ile
ENST00000682128.1:c.272G>C	ENSP00000506976.1:n.272G>C
ENST00000682247.1:c.1960G>C	ENSP00000507213.1:p.Gly654Arg
ENST00000682395.1:n.2435G>C
ENST00000682459.1:n.1674G>C
ENST00000682467.1:c.1892-282G>C	ENSP00000508062.1:n.1892-282G>C
ENST00000682615.1:n.325G>C
ENST00000682795.1:c.2118G>C	ENSP00000507574.1:p.Met706Ile
ENST00000682895.1:n.1687G>C
ENST00000682955.1:n.1545G>C
ENST00000683095.1:c.377G>C	ENSP00000508040.1:n.377G>C
ENST00000683188.1:c.2232G>C
ENST00000683380.1:n.1635G>C
ENST00000683828.1:c.1680G>C
ENST00000683907.1:c.236G>C	ENSP00000507754.1:n.236G>C
ENST00000684172.1:c.347G>C	ENSP00000508391.1:n.347G>C
ENST00000684259.1:n.3738G>C
ENST00000684538.1:n.1350G>C
ENST00000684549.1:n.1522G>C
ENST00000261534.9:c.1971G>C MANE Select	ENSP00000261534.4:p.Met657Ile
ENST00000261534.8:c.1971G>C	ENSP00000261534.4:p.Met657Ile
ENST00000452340.7:n.2947G>C
ENST00000554767.5:n.2757G>C
ENST00000555710.1:c.332G>C	ENSP00000451730.1:n.332G>C
ENST00000556171.1:c.563G>C
ENST00000556394.1:c.88-282G>C
ENST00000556446.1:n.272G>C
ENST00000602717.5:c.186G>C	ENSP00000487704.1:p.Met62Ile
NM_013382.5:c.1971G>C , LRG_844t1:c.1971G>C	NP_037514.2:p.Met657Ile
XM_011536675.1:c.2160G>C	XP_011534977.1:p.Met720Ile
XM_011536676.1:c.1827G>C	XP_011534978.1:p.Met609Ile
XM_011536677.1:c.1701G>C	XP_011534979.1:p.Met567Ile
XM_011536679.1:c.1254G>C	XP_011534981.1:p.Met418Ile
XR_943416.1:n.2224G>C
XM_011536675.2:c.2160G>C	XP_011534977.1:p.Met720Ile
XM_011536676.2:c.1827G>C	XP_011534978.1:p.Met609Ile
XM_011536677.3:c.1701G>C	XP_011534979.1:p.Met567Ile
XR_001750279.1:n.2257G>C
XR_001750282.1:n.2910G>C
XR_943416.3:n.2222G>C
NM_013382.6:c.1971G>C	NP_037514.2:p.Met657Ile
NM_013382.7:c.1971G>C MANE Select	NP_037514.2:p.Met657Ile