Canonical Allele Identifier: CA390513563

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744814C>G (hg19) ; chr14:g.77278471C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278471C>G , CM000676.2:g.77278471C>G	GRCh38
NC_000014.8:g.77744814C>G , CM000676.1:g.77744814C>G	GRCh37
NC_000014.7:g.76814567C>G	NCBI36
NG_008897.1:g.47412G>C , LRG_844:g.47412G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.995G>C
ENST00000556394.2:c.1611G>C	ENSP00000451967.2:p.Trp537Cys
ENST00000682247.1:c.2059G>C	ENSP00000507213.1:p.Gly687Arg
ENST00000682395.1:n.2534G>C
ENST00000682459.1:n.1773G>C
ENST00000682467.1:c.1929G>C	ENSP00000508062.1:p.Trp643Cys
ENST00000682795.1:c.2217G>C	ENSP00000507574.1:p.Trp739Cys
ENST00000682895.1:n.1786G>C
ENST00000682955.1:n.1644G>C
ENST00000683188.1:c.2331G>C
ENST00000683380.1:n.1734G>C
ENST00000683907.1:c.335G>C	ENSP00000507754.1:n.335G>C
ENST00000684259.1:n.3837G>C
ENST00000684538.1:n.1449G>C
ENST00000684549.1:n.1621G>C
ENST00000261534.9:c.2070G>C MANE Select	ENSP00000261534.4:p.Trp690Cys
ENST00000261534.8:c.2070G>C	ENSP00000261534.4:p.Trp690Cys
ENST00000452340.7:n.3046G>C
ENST00000554767.5:n.2856G>C
ENST00000555710.1:c.431G>C	ENSP00000451730.1:n.431G>C
ENST00000556394.1:c.125G>C
ENST00000556446.1:n.371G>C
ENST00000602717.5:c.285G>C	ENSP00000487704.1:p.Trp95Cys
NM_013382.5:c.2070G>C , LRG_844t1:c.2070G>C	NP_037514.2:p.Trp690Cys
XM_011536675.1:c.2259G>C	XP_011534977.1:p.Trp753Cys
XM_011536676.1:c.1926G>C	XP_011534978.1:p.Trp642Cys
XM_011536677.1:c.1800G>C	XP_011534979.1:p.Trp600Cys
XM_011536679.1:c.1353G>C	XP_011534981.1:p.Trp451Cys
XR_943416.1:n.2323G>C
XM_011536675.2:c.2259G>C	XP_011534977.1:p.Trp753Cys
XM_011536676.2:c.1926G>C	XP_011534978.1:p.Trp642Cys
XM_011536677.3:c.1800G>C	XP_011534979.1:p.Trp600Cys
XR_001750279.1:n.2356G>C
XR_001750282.1:n.3009G>C
XR_943416.3:n.2321G>C
NM_013382.6:c.2070G>C	NP_037514.2:p.Trp690Cys
NM_013382.7:c.2070G>C MANE Select	NP_037514.2:p.Trp690Cys