Canonical Allele Identifier: CA390513601

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278481-A-C
• MyVariant Identifiers: chr14:g.77744824A>C (hg19) ; chr14:g.77278481A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278481A>C , CM000676.2:g.77278481A>C	GRCh38
NC_000014.8:g.77744824A>C , CM000676.1:g.77744824A>C	GRCh37
NC_000014.7:g.76814577A>C	NCBI36
NG_008897.1:g.47402T>G , LRG_844:g.47402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.985T>G
ENST00000556394.2:c.1601T>G	ENSP00000451967.2:p.Leu534Arg
ENST00000682247.1:c.2049T>G	ENSP00000507213.1:p.Ala683=
ENST00000682395.1:n.2524T>G
ENST00000682459.1:n.1763T>G
ENST00000682467.1:c.1919T>G	ENSP00000508062.1:p.Leu640Arg
ENST00000682795.1:c.2207T>G	ENSP00000507574.1:p.Leu736Arg
ENST00000682895.1:n.1776T>G
ENST00000682955.1:n.1634T>G
ENST00000683188.1:c.2321T>G
ENST00000683380.1:n.1724T>G
ENST00000683907.1:c.325T>G	ENSP00000507754.1:n.325T>G
ENST00000684259.1:n.3827T>G
ENST00000684538.1:n.1439T>G
ENST00000684549.1:n.1611T>G
ENST00000261534.9:c.2060T>G MANE Select	ENSP00000261534.4:p.Leu687Arg
ENST00000261534.8:c.2060T>G	ENSP00000261534.4:p.Leu687Arg
ENST00000452340.7:n.3036T>G
ENST00000554767.5:n.2846T>G
ENST00000555710.1:c.421T>G	ENSP00000451730.1:n.421T>G
ENST00000556394.1:c.115T>G
ENST00000556446.1:n.361T>G
ENST00000602717.5:c.275T>G	ENSP00000487704.1:p.Leu92Arg
NM_013382.5:c.2060T>G , LRG_844t1:c.2060T>G	NP_037514.2:p.Leu687Arg
XM_011536675.1:c.2249T>G	XP_011534977.1:p.Leu750Arg
XM_011536676.1:c.1916T>G	XP_011534978.1:p.Leu639Arg
XM_011536677.1:c.1790T>G	XP_011534979.1:p.Leu597Arg
XM_011536679.1:c.1343T>G	XP_011534981.1:p.Leu448Arg
XR_943416.1:n.2313T>G
XM_011536675.2:c.2249T>G	XP_011534977.1:p.Leu750Arg
XM_011536676.2:c.1916T>G	XP_011534978.1:p.Leu639Arg
XM_011536677.3:c.1790T>G	XP_011534979.1:p.Leu597Arg
XR_001750279.1:n.2346T>G
XR_001750282.1:n.2999T>G
XR_943416.3:n.2311T>G
NM_013382.6:c.2060T>G	NP_037514.2:p.Leu687Arg
NM_013382.7:c.2060T>G MANE Select	NP_037514.2:p.Leu687Arg