Canonical Allele Identifier: CA390513684

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278503-G-T
• MyVariant Identifiers: chr14:g.77744846G>T (hg19) ; chr14:g.77278503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278503G>T , CM000676.2:g.77278503G>T	GRCh38
NC_000014.8:g.77744846G>T , CM000676.1:g.77744846G>T	GRCh37
NC_000014.7:g.76814599G>T	NCBI36
NG_008897.1:g.47380C>A , LRG_844:g.47380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.963C>A
ENST00000556394.2:c.1579C>A	ENSP00000451967.2:p.Leu527Met
ENST00000682247.1:c.2027C>A	ENSP00000507213.1:p.Ser676Tyr
ENST00000682395.1:n.2502C>A
ENST00000682459.1:n.1741C>A
ENST00000682467.1:c.1897C>A	ENSP00000508062.1:p.Leu633Met
ENST00000682795.1:c.2185C>A	ENSP00000507574.1:p.Leu729Met
ENST00000682895.1:n.1754C>A
ENST00000682955.1:n.1612C>A
ENST00000683188.1:c.2299C>A
ENST00000683380.1:n.1702C>A
ENST00000683907.1:c.303C>A	ENSP00000507754.1:n.303C>A
ENST00000684259.1:n.3805C>A
ENST00000684538.1:n.1417C>A
ENST00000684549.1:n.1589C>A
ENST00000261534.9:c.2038C>A MANE Select	ENSP00000261534.4:p.Leu680Met
ENST00000261534.8:c.2038C>A	ENSP00000261534.4:p.Leu680Met
ENST00000452340.7:n.3014C>A
ENST00000554767.5:n.2824C>A
ENST00000555710.1:c.399C>A	ENSP00000451730.1:n.399C>A
ENST00000556394.1:c.93C>A
ENST00000556446.1:n.339C>A
ENST00000602717.5:c.253C>A	ENSP00000487704.1:p.Leu85Met
NM_013382.5:c.2038C>A , LRG_844t1:c.2038C>A	NP_037514.2:p.Leu680Met
XM_011536675.1:c.2227C>A	XP_011534977.1:p.Leu743Met
XM_011536676.1:c.1894C>A	XP_011534978.1:p.Leu632Met
XM_011536677.1:c.1768C>A	XP_011534979.1:p.Leu590Met
XM_011536679.1:c.1321C>A	XP_011534981.1:p.Leu441Met
XR_943416.1:n.2291C>A
XM_011536675.2:c.2227C>A	XP_011534977.1:p.Leu743Met
XM_011536676.2:c.1894C>A	XP_011534978.1:p.Leu632Met
XM_011536677.3:c.1768C>A	XP_011534979.1:p.Leu590Met
XR_001750279.1:n.2324C>A
XR_001750282.1:n.2977C>A
XR_943416.3:n.2289C>A
NM_013382.6:c.2038C>A	NP_037514.2:p.Leu680Met
NM_013382.7:c.2038C>A MANE Select	NP_037514.2:p.Leu680Met