Canonical Allele Identifier: CA390513691

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278508-C-A
• MyVariant Identifiers: chr14:g.77744851C>A (hg19) ; chr14:g.77278508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278508C>A , CM000676.2:g.77278508C>A	GRCh38
NC_000014.8:g.77744851C>A , CM000676.1:g.77744851C>A	GRCh37
NC_000014.7:g.76814604C>A	NCBI36
NG_008897.1:g.47375G>T , LRG_844:g.47375G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958G>T
ENST00000556394.2:c.1574G>T	ENSP00000451967.2:p.Gly525Val
ENST00000682247.1:c.2022G>T	ENSP00000507213.1:p.Arg674Ser
ENST00000682395.1:n.2497G>T
ENST00000682459.1:n.1736G>T
ENST00000682467.1:c.1892G>T	ENSP00000508062.1:p.Gly631Val
ENST00000682795.1:c.2180G>T	ENSP00000507574.1:p.Gly727Val
ENST00000682895.1:n.1749G>T
ENST00000682955.1:n.1607G>T
ENST00000683188.1:c.2294G>T
ENST00000683380.1:n.1697G>T
ENST00000683907.1:c.298G>T	ENSP00000507754.1:n.298G>T
ENST00000684259.1:n.3800G>T
ENST00000684538.1:n.1412G>T
ENST00000684549.1:n.1584G>T
ENST00000261534.9:c.2033G>T MANE Select	ENSP00000261534.4:p.Gly678Val
ENST00000261534.8:c.2033G>T	ENSP00000261534.4:p.Gly678Val
ENST00000452340.7:n.3009G>T
ENST00000554767.5:n.2819G>T
ENST00000555710.1:c.394G>T	ENSP00000451730.1:n.394G>T
ENST00000556394.1:c.88G>T
ENST00000556446.1:n.334G>T
ENST00000602717.5:c.248G>T	ENSP00000487704.1:p.Gly83Val
NM_013382.5:c.2033G>T , LRG_844t1:c.2033G>T	NP_037514.2:p.Gly678Val
XM_011536675.1:c.2222G>T	XP_011534977.1:p.Gly741Val
XM_011536676.1:c.1889G>T	XP_011534978.1:p.Gly630Val
XM_011536677.1:c.1763G>T	XP_011534979.1:p.Gly588Val
XM_011536679.1:c.1316G>T	XP_011534981.1:p.Gly439Val
XR_943416.1:n.2286G>T
XM_011536675.2:c.2222G>T	XP_011534977.1:p.Gly741Val
XM_011536676.2:c.1889G>T	XP_011534978.1:p.Gly630Val
XM_011536677.3:c.1763G>T	XP_011534979.1:p.Gly588Val
XR_001750279.1:n.2319G>T
XR_001750282.1:n.2972G>T
XR_943416.3:n.2284G>T
NM_013382.6:c.2033G>T	NP_037514.2:p.Gly678Val
NM_013382.7:c.2033G>T MANE Select	NP_037514.2:p.Gly678Val