Canonical Allele Identifier: CA390513810

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278758-G-A
• MyVariant Identifiers: chr14:g.77745101G>A (hg19) ; chr14:g.77278758G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278758G>A , CM000676.2:g.77278758G>A	GRCh38
NC_000014.8:g.77745101G>A , CM000676.1:g.77745101G>A	GRCh37
NC_000014.7:g.76814854G>A	NCBI36
NG_008897.1:g.47125C>T , LRG_844:g.47125C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.928C>T
ENST00000556394.2:c.1544C>T	ENSP00000451967.2:p.Pro515Leu
ENST00000682128.1:c.304C>T	ENSP00000506976.1:n.304C>T
ENST00000682247.1:c.1992C>T	ENSP00000507213.1:p.Pro664=
ENST00000682395.1:n.2467C>T
ENST00000682459.1:n.1706C>T
ENST00000682467.1:c.1892-250C>T	ENSP00000508062.1:n.1892-250C>T
ENST00000682615.1:n.357C>T
ENST00000682795.1:c.2150C>T	ENSP00000507574.1:p.Pro717Leu
ENST00000682895.1:n.1719C>T
ENST00000682955.1:n.1577C>T
ENST00000683095.1:c.409C>T	ENSP00000508040.1:n.409C>T
ENST00000683188.1:c.2264C>T
ENST00000683380.1:n.1667C>T
ENST00000683907.1:c.268C>T	ENSP00000507754.1:n.268C>T
ENST00000684172.1:c.379C>T	ENSP00000508391.1:n.379C>T
ENST00000684259.1:n.3770C>T
ENST00000684538.1:n.1382C>T
ENST00000684549.1:n.1554C>T
ENST00000261534.9:c.2003C>T MANE Select	ENSP00000261534.4:p.Pro668Leu
ENST00000261534.8:c.2003C>T	ENSP00000261534.4:p.Pro668Leu
ENST00000452340.7:n.2979C>T
ENST00000554767.5:n.2789C>T
ENST00000555710.1:c.364C>T	ENSP00000451730.1:n.364C>T
ENST00000556394.1:c.88-250C>T
ENST00000556446.1:n.304C>T
ENST00000602717.5:c.218C>T	ENSP00000487704.1:p.Pro73Leu
NM_013382.5:c.2003C>T , LRG_844t1:c.2003C>T	NP_037514.2:p.Pro668Leu
XM_011536675.1:c.2192C>T	XP_011534977.1:p.Pro731Leu
XM_011536676.1:c.1859C>T	XP_011534978.1:p.Pro620Leu
XM_011536677.1:c.1733C>T	XP_011534979.1:p.Pro578Leu
XM_011536679.1:c.1286C>T	XP_011534981.1:p.Pro429Leu
XR_943416.1:n.2256C>T
XM_011536675.2:c.2192C>T	XP_011534977.1:p.Pro731Leu
XM_011536676.2:c.1859C>T	XP_011534978.1:p.Pro620Leu
XM_011536677.3:c.1733C>T	XP_011534979.1:p.Pro578Leu
XR_001750279.1:n.2289C>T
XR_001750282.1:n.2942C>T
XR_943416.3:n.2254C>T
NM_013382.6:c.2003C>T	NP_037514.2:p.Pro668Leu
NM_013382.7:c.2003C>T MANE Select	NP_037514.2:p.Pro668Leu