Canonical Allele Identifier: CA390513544

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278466-A-T
• MyVariant Identifiers: chr14:g.77744809A>T (hg19) ; chr14:g.77278466A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278466A>T , CM000676.2:g.77278466A>T	GRCh38
NC_000014.8:g.77744809A>T , CM000676.1:g.77744809A>T	GRCh37
NC_000014.7:g.76814562A>T	NCBI36
NG_008897.1:g.47417T>A , LRG_844:g.47417T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1000T>A
ENST00000556394.2:c.1616T>A	ENSP00000451967.2:p.Leu539Ter
ENST00000682247.1:c.2064T>A	ENSP00000507213.1:p.Leu688=
ENST00000682395.1:n.2539T>A
ENST00000682459.1:n.1778T>A
ENST00000682467.1:c.1934T>A	ENSP00000508062.1:p.Leu645Ter
ENST00000682795.1:c.2222T>A	ENSP00000507574.1:p.Leu741Ter
ENST00000682895.1:n.1791T>A
ENST00000682955.1:n.1649T>A
ENST00000683188.1:c.2336T>A
ENST00000683380.1:n.1739T>A
ENST00000683907.1:c.340T>A	ENSP00000507754.1:n.340T>A
ENST00000684259.1:n.3842T>A
ENST00000684538.1:n.1454T>A
ENST00000684549.1:n.1626T>A
ENST00000261534.9:c.2075T>A MANE Select	ENSP00000261534.4:p.Leu692Ter
ENST00000261534.8:c.2075T>A	ENSP00000261534.4:p.Leu692Ter
ENST00000452340.7:n.3051T>A
ENST00000554767.5:n.2861T>A
ENST00000555710.1:c.436T>A	ENSP00000451730.1:n.436T>A
ENST00000556394.1:c.130T>A
ENST00000556446.1:n.376T>A
ENST00000602717.5:c.290T>A	ENSP00000487704.1:p.Leu97Ter
NM_013382.5:c.2075T>A , LRG_844t1:c.2075T>A	NP_037514.2:p.Leu692Ter
XM_011536675.1:c.2264T>A	XP_011534977.1:p.Leu755Ter
XM_011536676.1:c.1931T>A	XP_011534978.1:p.Leu644Ter
XM_011536677.1:c.1805T>A	XP_011534979.1:p.Leu602Ter
XM_011536679.1:c.1358T>A	XP_011534981.1:p.Leu453Ter
XR_943416.1:n.2328T>A
XM_011536675.2:c.2264T>A	XP_011534977.1:p.Leu755Ter
XM_011536676.2:c.1931T>A	XP_011534978.1:p.Leu644Ter
XM_011536677.3:c.1805T>A	XP_011534979.1:p.Leu602Ter
XR_001750279.1:n.2361T>A
XR_001750282.1:n.3014T>A
XR_943416.3:n.2326T>A
NM_013382.6:c.2075T>A	NP_037514.2:p.Leu692Ter
NM_013382.7:c.2075T>A MANE Select	NP_037514.2:p.Leu692Ter